CADTH Health Technology Review
An Inventory of Rare Disease Registries in the Canadian Landscape
Environmental Scan
Abbreviations
HTA
health technology assessment
RDR
rare disease registry
Key Messages
What Was the Question?
There is a lack of centralized information about rare disease registries (RDRs) in Canada. To address this, we created an inventory of RDRs in Canada and international RDRs that include patients living in Canada.
What Did We Do?
Information about RDRs was identified through a search of published literature, grey literature, consultations with members of the rare disease community, and a survey with the registry holders.
What Did We Find?
We identified 148 RDRs, of which 66 are RDRs in Canada and 82 international RDRs.
In total, 21% of RDRs in Canada and 11% of international RDRs capture rare cancer(s).
About a half of RDRs in Canada (53%) and international RDRs (46%) collaborate with other national or international registries or networks.
Most RDRs in Canada (73%) and international RDRs (86%) identify patients for RDR enrollment through health care provider referrals.
Electronic medical records (68%), clinician-reported data (68%), and medical chart abstraction (60%) are the most common sources of data for RDRs in Canada compared to international RDRs, for which patient (79%) and caregiver (61%) surveys are most common.
Most RDRs in Canada collect clinical data (95%), laboratory and diagnostic data (85%), health outcomes data (83%), and treatment data (78%), and less commonly patient-generated data (55%) and caregiver data (15%).
What Does This Mean?
The information in the inventory will help guide future initiatives for improving the RDR landscape in Canada. Most RDRs in Canada source data from electronic health records, clinician-reported data, and medical charts. Fewer RDRs in Canada implement patient and caregiver surveys. RDRs in Canada include information relevant to decision-makers as most collect clinical data, health outcomes data, and treatment data, and about half collect health resource utilization data. This inventory will support future initiatives to assess the suitability of RDRs for generating decision-grade real-world evidence.
Background
In 2023, the Federal Government of Canada launched the National Strategy for Drugs for Rare Diseases to help increase access to affordable and effective therapies for people with rare diseases.1 People with rare diseases often have limited or no treatment options, and conducting clinical trials in this area is inherently challenging. This can result in clinical uncertainty and further delays in accessing new and emerging therapies.
There is growing recognition in Canada and globally that real-world data and real-world evidence can play a significant role in optimizing both regulatory and reimbursement decision-making.2 Rare disease registries (RDRs) have the potential to provide valuable real-world data and can complement existing regulatory and health technology assessment (HTA) frameworks. Registries can help characterize natural history, disease progression, and patient experience, as well as evaluate emerging technologies.3
Despite their importance, Canada currently lacks a centralized and comprehensive inventory of RDRs, including both registries in Canada and international registries with participants who live in Canada. While other registry directories exist, there is no inventory designed specifically to inform regulatory, HTA, and payer needs.
We developed an inventory of RDRs with the goal of capturing registries that collect data that have the potential for generating decision-grade real-world evidence to answer specific questions (e.g., natural history, postmarket therapy assessment). Our inventory captures additional elements, including those required for a preliminary assessment of registry capabilities (e.g., geographical coverage, sample size, data types, data sources). This is part of ongoing initiatives at our organization to better understand the RDR landscape in Canada, which will support future initiatives to assess and improve registry quality for regulatory and reimbursement decision-making.
Methods
CADTH developed the inventory of RDRs in Canada and international RDRs that include patients living in Canada in 2 phases. In phase 1, RDRs were identified through a rare disease–specific grey literature search, consultations with members of the rare disease community, and our Spring 2024 open call funding opportunity. This search was complemented by a search of disease registries in published literature and grey literature, which were further categorized into RDRs. In phase 2, the registry holders identified in phase 1 were invited to complete a survey to validate and supplement the phase 1 inventory information.
Phase 1: Identification of RDRs
RDRs were identified through several approaches, including a grey literature search using the terms rare disease, registry, observational research, and Canada in collaboration with Case Market Access Consulting Inc. and COMPASS Medical Affairs Consulting Inc.; consultations with members of the rare disease community; and through our Spring 2024 open call funding opportunity. Additional RDRs were also identified in a comprehensive search of disease registries in published and grey literature with a focus on disease registries in Canada or international disease registries that include participants who live in Canada. Registries were included in the RDR inventory if they met the inclusion criteria specified in Table 1.
Phase 2: Survey of Registry Holders
To validate and supplement the information gathered in the phase 1 search, we created an online survey for registry holders that was contracted and conducted through Medlior Health Outcomes Research Ltd from March 20, 2024, to June 10, 2024 (Appendix 1). The registry holders were invited to complete the survey and at least 2 follow-up emails were sent to encourage participation. The registry holders were able to complete the survey independently online or with a research associate by telephone or virtual meeting. An honorarium or donation was provided on completion.
Synthesis Approach
The information in the inventory is compiled from both publicly available information and the survey of registry holders. Publicly available information was populated up to January 26, 2024, from RDR websites and publications about the RDRs and entered into an Excel database (refer to Appendix 2 for additional details).
The survey of registry holders validated information gathered from publicly available information. It also gathered supplemental information, including if patient or caregiver consent is required for registry enrollment, how patients are identified as potential candidates to participate in the registry, the type(s) of data collected, the source(s) of the data, if the data have ever been linked with external data sources (e.g., other registries, administrative data, biobanks), and if the registry collaborates with any national or international registries or networks (refer to Appendix 1 for additional details on the survey questions). Registries that capture multiple diseases were able to enter specific information for up to 10 registries.
Table 1: Inclusion and Exclusion Criteria for the Inventory of Rare Disease Registries
Category | Inclusion criteria | Exclusion criteria |
|---|---|---|
Geographic coverage |
|
|
Active status |
|
|
Rare disease or condition |
| |
Registry type |
|
|
NORD = National Organization for Rare Disorders.
Findings
Summary
A total of 148 RDRs met our inclusion criteria for the inventory summary. Of these, 66 are RDRs hosted and operated only in Canada and 82 are classified as RDRs with patients living in Canada (refer to Appendix 3). Among the 66 RDRs in Canada, 40 (61%) completed the phase 2 survey; 28 (34%) of the 82 international RDR completed the phase 2 survey.
RDRs in Canada
Information Gathered From the Public Search and Survey of Registry Holders (n = 66)
Of the 66 RDRs in Canada, 85% (n = 56) reported on the number of patients, which ranged from 17 to 55,490 patients (Table 2). Rare cancer(s) are examined in 21% (n = 14) of RDRs in Canada. Among RDRs in Canada, 50% (n = 33) include pediatric and adult patients, 23% (n = 15) exclusively include pediatric patients, and 21% (n = 14) exclusively include adult patients (Table 2). Figure 1 presents the percentage of RDRs in Canada with representation in each province and territory, where 15% (n = 10) of RDRs reported capturing data in all provinces and territories. Most RDRs capture data from Ontario (71%), Quebec (55%), and Alberta (55%) (Figure 1).
Information Gathered From the Survey of Registry Holders (n = 40)
Among the 40 RDRs in Canada that completed the survey, 93% (n = 37) require patient or caregiver consent for registry enrollment, while 5% (n = 2) collect data under a waiver of consent (Table 2). About half of RDRs in Canada collaborate with national or international registries or networks (53%, n = 21) and have been linked with external data sources such as other registries or administrative data (43%, n = 17) (Table 2). Most RDRs in Canada identify patients for registry participation through referrals from health care providers (73%), followed by identification from electronic medical records (33%) (Figure 2). The sources of data for RDRs in Canada vary, where electronic medical records (68%), clinician-reported data (68%), and medical chart abstraction (60%) are the most common (Figure 3). Most RDRs in Canada collect clinical data (95%), laboratory and diagnostic data (85%), health outcomes data (83%), and treatment data (78%) (Figure 4). Patient-generated data (55%) and caregiver data (15%) are less common (Figure 4).
International RDRs With Patients Living in Canada
Information Gathered From the Public Search and Survey of Registry Holders (n = 82)
Of the 82 international RDRs, 87% (n = 71) reported on the number of patients, which ranged from 30 to 88,832 total patients, while 52% (n = 43) listed information about the specific number of patients in Canada, which ranged from 2 to 5,600 patients (Table 2). Rare cancers are examined in 11% (n = 9) of international RDRs. Most international registries include both pediatric and adult patients (73%, n = 60), 12% (n = 10) collect data exclusively from adult patients, and 7% (n = 6) collect data exclusively among pediatric patients (Table 2).
Among international RDRs that reported coverage of jurisdictions in Canada (73%; n = 60), 11% (n = 9) capture information in all provinces and territories. International RDRs capture data from Ontario (60%), Quebec (48%), British Colombia (42%), Alberta (42%), Manitoba (30%), Nova Scotia (29%), Saskatchewan (25%), New Brunswick (23%), Newfoundland and Labrador (23%), Prince Edward Island (14%), Yukon (13%), Northwest Territories (13%), and Nunavut (11%).
Information Gathered From the Survey of Registry Holders (n = 28)
Among the 28 international RDRs that completed the survey, 100% require patient or caregiver consent for registry enrollment (Table 2). About half of international RDRs collaborate with national or international registries or networks (46%; n = 13) and 18% (n = 5) have been linked with external data sources such as other registries or biobanks (Table 2). Most international RDRs identify patients for registry participation through referrals from health care providers (86%), patient organizations (79%), and online self-registration (79%) (Figure 2). Most data are sourced from patient (79%) and caregiver (61%) surveys (Figure 3). Most commonly, international RDRs collect clinical data (100%), sociodemographic data (93%), health outcomes data (89%), laboratory and diagnostic data (79%), treatment data (75%), and patient-generated data (75%) (Figure 4).
Table 2: Characteristics of RDRs in Canada and International RDRs With Patients in Canada
Characteristic | RDRs in Canada (n = 66), n (%) | International RDRs with patients living in Canada (n = 82), n (%) | Overall RDRs (n = 148), n (%) |
|---|---|---|---|
Information gathered from the literature search and survey of registry holders | |||
Number of patients living in Canada | Range: 17 to 55,490 56 (85%) | Range: 2 to 5,600 43 (52%) | Range: 2 to 55,490 99 (67%) |
Number of patients living internationally | NA | Range: 30 to 88,832b 71 (87%) | NA |
Registry captures patients with rare cancer(s) | 14 (21%) | 9 (11%) | 23 (16%) |
Population age group captured in this registry | |||
Both pediatric and adult patients | 33 (50%) | 60 (73%) | 93 (63%) |
Pediatric patients | 15 (23%) | 6 (7%) | 21 (14%) |
Adult patients | 14 (21%) | 10 (12%) | 24 (16%) |
No survey response or unclear from literature search | 4 (6%) | 6 (7%) | 10 (7%) |
Information gathered from the survey of registry holders | |||
Number of registries that completed survey | 40 (61%) | 28 (34%) | 68 (46%) |
Informed patient or caregiver consent required for registry enrollmentc | |||
Yes | 37 (93%) | 28 (100%) | 65 (96%) |
No, data obtained under a waiver of consent | 2 (5%) | 0 (0%) | 2 (3%) |
Did not respond | 1 (3%) | 0 (0%) | 1 (1%) |
Registry collaborates with national or international registries or networksc | |||
Yes | 21 (53%) | 13 (46%) | 34 (50%) |
No | 13 (33%) | 11 (39%) | 24 (35%) |
Did not respond | 6 (15%) | 4 (14%) | 10 (15%) |
Registry has been linked with external data sources (e.g., other registries, biobanks)c | |||
Yes | 17 (43%) | 5 (18%) | 22 (32%) |
No | 17 (43%) | 17 (61%) | 34 (50%) |
Did not respond | 6 (15%) | 6 (21%) | 12 (18%) |
NA = not applicable; RDR = rare disease registry.
aNot applicable as registries in Canada only have patients living in Canada.
bThe TREAT-NMD Global Registry Network reported collecting data on 88,832 patients with neuromuscular diseases across multiple countries, including 65 registries.
cAmong registries that responded to the survey of registry holders (n = 40 RDRs in Canada; n = 28 international RDRs).
Figure 1: Percentage of RDRs With at Least 1 Patient in Each Province and Territory in Canada, Among RDRs in Canada (n = 68)
AB = Alberta; BC = British Colombia; MB = Manitoba; NB = New Brunswick; NL = Newfoundland and Labrador; NS = Nova Scotia; NT = Northwest Territories; NU = Nunavut; ON = Ontario; PE = Prince Edward Island; QC = Quebec; RDR = rare disease registry; SK = Saskatchewan; YT = Yukon.
Notes: This figure depicts the percentage of RDRs that have representation from each province and territory, not the percentage of sites per province or territory. It represents the percentage of RDRs that have at least 1 patient in each province and territory. For example, 52% of RDRs in Canada have at least 1 patient in British Columbia. The geographical coverage is presented for the overall registry; specific diseases within the registry may have differential provincial and territorial coverage. Registry holders were instructed to enter provinces and territories based on the primary residential address of patients who are currently enrolled. For example, a participant who lives in the Northwest Territories and travels to a clinic in Alberta would be included in the Northwest Territories group.
The number and percentage of registries with representation from each province and territory were, for all provinces and territories, n = 10 (15%); BC, n = 34 (52%); AB, n = 36 (55%); SK, n = 19 (29%); MB, n = 24 (36%); ON, n = 47 (71%); QC, n = 36 (55%); NB, n = 19 (29%); PE: n = 13 (20%); NS, n = 28 (42%); NL, n = 22 (33%); YT, n = 14 (21%); NT, n = 12 (18%); NU, n = 10 (15%); and registry holder did not answer survey or was unclear from the literature search, n = 9 (14%).
Figure 2: Method of Patient Identification for Participation in RDRs, RDRs in Canada (n = 40) and International RDRs With Patients Living in Canada (n = 28)
RDR = rare disease registry.
Notes: This information was obtained directly from a survey with the registry holders. Each registry could select multiple methods. One (3%) RDR from Canada did not respond to this question. Among registries that responded to employing “other” methods to identify patients for participation in the registry, 5 (13%) RDRs in Canada and 1 (4%) international registry with patients living in Canada responded that patients are identified to participate from specific clinics; 1 (3%) RDR in Canada identifies patients through collaborations with Statistics Canada and 1 (4%) of international RDR with patients living in Canada identifies patients through social media outreach.
Figure 3: Source of Data, RDRs in Canada (n = 40) and International RDRs With Patients Living in Canada (n = 28)
RDR = rare disease registry.
Notes: This information was obtained directly from a survey with the registry holders. Each registry could select multiple sources. One (3%) RDR in Canada did not respond to this question.
Figure 4: Types of Data Collected, RDRs in Canada (n = 40) and International RDRs With Patients Living in Canada (n = 28)
OHIP = Ontario Health Insurance Plan; RDR = rare disease registry.
Notes: This information was obtained directly from a survey with the registry holders. Each registry could select multiple options. One (3%) RDR in Canada did not respond to this question. Among the registries that responded to collecting “other” types of data, 1 (3%) RDR in Canada reported collecting OHIP number for linkage, 1 (3%) RDR in Canada reported collecting occupational and environmental data, and 1 (4%) international RDR with patients living in Canada reported collecting behavioural data.
Strengths
This scan is the first centralized inventory of RDRs designed specifically to inform regulatory, HTA, and payer needs in support of the Government of Canada’s National Strategy for Drugs for Rare Disease. The inventory includes both registries in Canada and international registries with participants who live in Canada. Information about RDRs was compiled using a comprehensive search strategy, including published literature, grey literature, consultation with the rare disease community, and a survey of the registry holders. This inventory includes key elements about RDRs that are important to decision-makers, such as coverage in Canada, sources of data, and types of data. Through this inventory, we have a better understanding of the potential capabilities of RDRs as sources of data for informing decision-making, particularly as more than 75% of RDRs collect clinical data, health outcomes data, and treatment data, and about half collect health resource utilization data. This inventory and future iterations of this inventory are well positioned to support the provinces and territories as they begin to sign bilateral agreements with the federal government to receive funds for cost-sharing new and emerging drugs for rare diseases.
Limitations
This scan provides an initial overview of RDRs in the landscape in Canada and has potential gaps. The number of RDRs in this inventory may be underestimated. Registries without prior publications, websites, or established portals for participant registration are not captured in this inventory nor are international registries that have patients in Canada but do not publicly report on geographical coverage. Although we identified additional RDRs through our spring 2024 open call funding opportunity, there may have been additional RDRs that were not captured if they were not aware of the funding call or did not submit a letter of intent. The link to the survey for registry holders was limited to RDRs that were already on our list, which may have also reduced the number of RDRs in the inventory.
This inventory also excludes databases that collect contact information only or collect information about specific procedures or events, biobanks, and genomic datasets that are not related to at least 1 specific rare disease. It is possible these excluded databases collect disease information, although it is not publicly reported and not reflected in this inventory. In addition, registries that collect data on both rare and nonrare diseases may be excluded, unless the captured rare diseases were explicitly publicly mentioned.
Although there is no universal definition of a rare disease, for this inventory, a disease is considered rare if it is listed in the National Organization for Rare Disorders (NORD) Rare Disease Database or the Orphanet Database. However, there is variability in rare disease prevalence thresholds within these 2 databases, and prevalence estimates may be outdated or may not fully reflect the context in Canada. Given the heterogeneity of the rare disease landscape and challenges in estimating prevalence, other facets, such as unmet need and lack of or limits to access to therapeutics, should also be considered.
This inventory of RDRs relies on both publicly available information and information directly from registry holders. As a result, there is higher certainty in the inventory elements obtained from registry holders, relative to information from the literature and public search. The information gathered in the survey may not be fully representative of the RDR landscape as the response rate was 61% for RDRs in Canada and 34% for international RDRs. Although this inventory captures key elements of RDRs in Canada and international RDRs with patients living in Canada, additional information will be required to assess the quality and suitability of registries for specific HTA purposes.
Conclusion
This scan established an inventory of RDRs in Canada and internationally to better understand the rare disease registry landscape in Canada. This inventory will be periodically updated over time and the information captured may be expanded in the future to address the evolving needs of decision-makers. We plan to engage with health system partners to gather feedback about the initial inventory to ensure it remains a relevant and valuable resource for the rare disease community and decision-makers. The information captured in the inventory may help to inform future initiatives for improving the RDR landscape in Canada. RDRs in Canada include information relevant to decision-makers as most collect clinical data, health outcomes data, and treatment data, and about half collect health resource utilization data. There is a need for ongoing efforts to expand coverage in RDRs to capture patients with rare diseases across Canada. Most RDRs in Canada source data from electronic health records, clinician-reported data, and medical charts. Fewer RDRs in Canada employ patient and caregiver surveys, which could lead to gaps in data completeness and richness. This foundational work will support future initiatives to assess the suitability of registries for generating decision-grade real-world evidence.
References
1.Health Canada. Investments to Support Access to Drugs for Rare Diseases. 2023: https://www.canada.ca/en/health-canada/news/2023/03/investments-to-support-access-to-drugs-for-rare-diseases.html. Accessed 2024 Jan 29.
2.Tadrous M, Ahuja T, Ghosh B, Kropp R. Developing a Canadian Real-World Evidence Action Plan across the Drug Life Cycle. Healthc Policy. 2020;15(4):41-47. PubMed
3.Wu J, Wang C, Toh S, Pisa FE, Bauer L. Use of real-world evidence in regulatory decisions for rare diseases in the United States-Current status and future directions. Pharmacoepidemiol Drug Saf. 2020;29(20):1213-1218. PubMed
4.McGowan J, Sampson M, Salzwedel DM, Cogo E, Foerster V, Lefebvre C. PRESS Peer Review of Electronic Search Strategies: 2015 guideline statement. J Clin Epidemiol. 2016;75:40-46. PubMed
5.National Organization for Rare Disorders. Rare Disease Database. 2024: https://rarediseases.org/rare-diseases/. Accessed 2023 Dec 20.
6.Orphanet. Rare diseases. 2024: https://www.orpha.net/consor/cgi-bin/Disease.php?lng=EN. Accessed 2023 Dec 20.
7.The European Medicines Agency. Guideline on registry-based studies. 2021: https://www.ema.europa.eu/en/guideline-registry-based-studies. Accessed 2023 Dec 11.
8.U.S. Food and Drug Administration. Rare Diseases at FDA. 2022: https://www.fda.gov/patients/rare-diseases-fda. Accessed 2023 Dec 11.
9.The European Medicines Agency. Orphan designation: Overview. https://www.ema.europa.eu/en/human-regulatory-overview/orphan-designation-overview. Accessed 2023 Dec 11.
Appendix 1: Data Elements in Phase 2 Survey of Registry Holders
Note that this appendix has not been copy-edited.
Rare Disease Registry Inventory Survey Questions
1. Please enter the registry name.
[Free text]
2. Is this registry active as of March 2024?
Note: An active registry is defined as a registry where enrollment is open and new participants can continue to join.
Yes
No
3. Is this registry a Canadian or an international registry?
Note: Canadian registries are defined as registries that are hosted and operated in Canada.
Canadian
International
4. Please list the registry’s lead institution or organization.
Note: The lead institution or organization is that which is responsible for hosting and storing registry data. You may list up to 2 lead institutions or organizations.
[Free text box 1]
[Free text box 2]
5. Please list the registry’s lead contact person.
[Free text]
6. Please list the lead person’s contact information for this registry.
[Free text box for information for lead person 1]
[Free text box for information for lead person 2]
7. How are patients identified as potential candidates to participate in this registry? Select all that apply.
Note: If uncertain, please select “other”.
Referral from health care provider(s)
Identification through electronic medical records
Patient organization(s) or patient advocacy group(s)
Online self-registration
Through participation in existing research studies or clinical trials
Other (please specify)
8. Is informed patient consent required for enrollment into this registry?
Note: Please answer “yes” even if only 1 data collection site requires patient consent.
Yes
No, data are collected under a waiver of consent
No, other (please specify)
Uncertain
9. What type(s) of data are collected within this registry? Select all that apply.
Note: If uncertain, please select “other”.
Contact information (e.g., name, telephone)
Sociodemographic data (e.g., age, gender, education, income)
Clinical data (e.g., disease severity, medical history, medication history)
Treatment data (e.g., treatment response, treatment adherence)
Health outcome data (e.g., disease progression, mortality)
Laboratory and diagnostic data (e.g., genetic tests, biomarkers)
Health resource cost or utilization data (e.g., hospitalizations)
Patient-generated data (e.g., patient-reported outcomes)
Caregiver data
Other (please specify)
10. How are data collected in this registry? Select all that apply.
Electronic health records
Medical chart abstraction
Clinician-reported data
Patient surveys
Caregiver surveys
Linkage with other sources (laboratory, drug utilization, and so forth)
Health technologies (e.g., smartphone apps, wearable devices)
Other (please specify)
11. Does this registry capture participants with rare cancer(s)?
Yes
No
12. List all rare disease(s) captured in this registry
Note: Please enter 1 disease per line. Enter the specific disease, not the disease group (e.g., enter “spinal muscular atrophy,” not “neuromuscular disease”). If more than 10 diseases are captured in the registry, please list the most prevalent 10.
[Free text, where each disease is listed in a separate answer box]
13. Specify the population age group for each disease captured in this registry.
Note: Please specify the age at which follow-up with patients ceases, if applicable.
Pediatric population (< 18 years of age)
Adult population (≥ 18 years of age)
Both pediatric and adult populations
14. For each disease captured in this registry, specify the range of patient follow-up.
For example, patients with disease X are followed in this registry for 1 to 2 years.
[Free text, with a row for each disease, with a column for a lower and upper limit of follow-up range, and a dropdown tab for months and years]
For Canadian and international rare disease registries
15. For each disease captured in this registry as of February 2024, specify the total number of enrolled participants.
Note: Please specify the total number of enrolled participants, not the expected total.
[Free text, with a row for each disease]
For international rare disease registries only
16. For each disease captured in this registry as of February 2024, specify the total number of enrolled participants who identify as being from Canada.
Note: Please specify the total number of enrolled participants, not the expected total.
[Free text, with a row for each disease]
17. For each disease captured in this registry as of March 2024, check the box if you have any participants enrolled from each province and/or territory in Canada.
Note: Please specify if participants are currently enrolled in each province or territory, not based on whether participants are expected to be enrolled. If a participant travels from 1 province or territory to receive care in another province or territory, please base their listed province or territory on their primary residential address. For example, a participant who lives in the Northwest Territories and travels to a clinic in Alberta should be included in the Northwest Territories group.
Disease 1 [This question will be asked for each disease specified in question #12]
a) British Columbia
b) Alberta
c) Saskatchewan
d) Manitoba
e) Ontario
f) Quebec
g) New Brunswick
h) Prince Edward Island
i) Nova Scotia
j) Newfoundland and Labrador
k) Yukon
l) Northwest Territories
m) Nunavut
18. Have data from this registry ever been linked with external data sources (e.g., other national or international registries, administrative data, biobanks)?
Yes
No
Uncertain
If yes to question 18:
19. Please specify the external data sources this registry has linked with. Select all that apply.
a) Electronic health records
b) Health administrative databases
c) National health surveys
d) Public health surveillance systems
e) Other national or international registries
f) Biobanks or genetic databases
g) Clinical trial databases
h) Patient-reported data platforms
i) Other (please specify)
20. Does this registry collaborate with any national or international registries or networks?
Note: In this question, collaborate is defined as sharing aggregate or patient-level data or harmonizing data standards or elements, such as creating common or minimum datasets, cross-validating data, or working on joint research projects.
Yes
No
Uncertain
21. Would you be willing to update your responses to this survey annually?
Yes
No
Other (please specify)
22. If applicable, please specify any additional information you want to share about this registry or your survey responses.
[Free text: allow responders to leave this blank]
Appendix 2: Data Elements and Definitions Applied When Populating RDR Inventory With Information From the Literature and Public Search
Note that this appendix has not been copy-edited.
Table 3: Data Elements and Definitions Applied During Screening of Rare Disease Registries (Literature and Publicly Available Information)
Data element | Coding options | Data element definition |
|---|---|---|
Registry name | [Free text] | Name of the registry If registry has multiple names, use the name most prominent on registry website or in logos. |
Screening decision | Include Exclude Discuss | Decision if registry is to be included in the final inventory of rare disease registries. If unclear if registry should be included, reviewer codes as “Discuss” to prompt discussion among all reviewers. |
Notes | [Free text] | Any notes about registry, including reason why reviewer coded screening decision as “Discuss.” |
Exclusion reason | NA Duplicate In development Not a registry Not rare Clinical trial registry No Canadian sites Unable to determine if any participants in Canada | Reason why registry is excluded: NA: use when registry meets inclusion criteria. Duplicate: registry is already included in the inventory. In development: new or pilot registry, which is not yet active, defined as registry without ethics approval and who has not begun patient recruitment. Not a registry: registries where patients are not defined by a particular disease, focus on procedures (e.g., organ replacement, dialysis), accidents (e.g., spinal cord injuries), occupational exposures (e.g., radiation), genomics (bioinformatic data only), track births or deaths; track immunizations, publications about need for registry, or a list of patients with a particular disease without any health outcomes collected. Not rare: not a rare disease, after searching NORD Rare Disease Database, Orphanet Database, or Canadian prevalence data. Clinical trial registry: public record system for registration in clinical trials. No Canadian sites: use for registries with no Canadian sites. Unable to determine any participants in Canada: use for registries where it is unclear how many participants or sites in Canada. |
Does this registry capture participants with rare disease(s)? | Yes No Unclear | Indicate if registry collects data on at least 1 disease that is considered rare based on search of NORD Rare Disease Database, Orphanet Database, or Canadian prevalence data. Use unclear if unable to find any prevalence data. |
Rare disease classification | NORD EMA CA Unclear | Criteria used for coding rare disease(s) reflected in registry: NORD: disease listed in The NORD Rare Disease Database5 based on FDA definition of rare disease.8 EMA: disease listed in the Orphanet Rare Disease Database6 based on EMA definition of rare disease.9 CA: Internet scan for Canadian prevalence data that meets NORD or EMA definitions. Unclear: unable to find any prevalence data. |
Website(s) | [Link(s) to registry website(s)] | Link(s) to registry website(s) that were used to populate the inventory. |
Publication(s) used to populate inventory | [Link(s) to publication(s)] | Link(s) to publication(s) about the registry that were used to populate the inventory. Specify in brackets which inventory data elements you populated with the publication(s). |
Is this registry active as of January 2, 2024? | Yes No Unclear | Specify if the registry is active: Yes: Active, defined as a registry with ethics approval and where patient recruitment began as of January 2, 2024. If registry is an ongoing cohort study, include. No: registry is closed, or if a cohort study is complete. Unclear: unable to determine if registry is active |
Number of enrolled participants in Canada | [Free text] Unclear | List the number of participants in the registry who live in Canada. If unable to find size, use “unclear.” The number of patients refers to the total number of patients enrolled in the registry, which can include both patients and parents or guardians or caregivers of patients. |
Date number of enrolled participants in Canada retrieved | [Free text] Unclear | Date size (Canada) was calculated “Month, Year” or “Year” if no Month available. If unclear what date size was calculated, use publication date. |
Total number of enrolled international participants | [Free text] NA Unclear | List the total number of participants in the registry. For Canadian registries, use “size (Canada),” and code “size (overall)” as “NA.” If unable to find size, use “unclear.” |
Date number of enrolled international participants retrieved | [Free text] Unclear | Date size was calculated “Month, Year” or “Year” if no Month available. If unclear what date size was calculated, use publication date. |
Population age group captured in this registry | Pediatric only Adults only Both | Among patients with the rare disease, specify the population age group represented: Pediatric only: registry includes patients ≤ 18 years old. If the parents or caregivers of pediatric patients provide data on behalf of the pediatric patients, use this option. Adults only: registry includes patients > 18 years old Both: registry includes both pediatric and adult patients. |
Lead institution or organization | [Free text] Unclear | List the name of the institution that is the registry lead/ national team. |
Lead contact person/email | [Free text] Unclear | List the name and email of the individual that is the registry lead (e.g., director, principal investigator). If no specific lead, list the general email of the registry. |
Part of an international registry or network? | Yes No NA Unclear | Specify if the registry is part of or collaborates with an international registry or international or national network: Yes: Part of an international registry or an international or national registry network. No: Explicitly stated or clear that registry is not part of an international registry or network. NA: registry is the international registry or network. Unclear: unable to determine if registry is part an international registry or network. |
Specify which international registry or network | [Free text] NA Unclear | Specify which international registry or international or national network the registry is part of. For example, the Canadian Neuromuscular Disease Registry collaborates with the international network TREAT-NMD. |
Is this registry a Canadian or an international registry? | Canadian International Unclear | Specify the registry’s Canadian involvement: Canadian: registry is hosted in Canada and majority of sites and patients live in Canada. International: International registry (registry is hosted internationally) that includes patients who live in Canada. Unclear: unable to determine if any patients who live in Canada. |
Participating countries | [Free text] Unclear | List the specific participating countries. For example, “USA and Canada.” If unable to determine the specific countries, list the number of countries, for example, “23 countries.” If unable to determine the number of countries, code as “unclear.” |
Canadian coverage | [Free text] Unclear | List the specific Canadian provinces/territories that are included. For example, “3 provinces: ON, QC, BC.” If unable to determine the specific provinces, list the number of provinces/territories, for example “3 provinces.” If unable to determine the number of or specific provinces/territories, use “unclear.” |
Does this registry capture participants with rare cancer(s)? | Yes No Unclear | Specify if the registry includes rare diseases in oncology. |
Specific rare disease(s) | [Free text] | List specific name of disease(s) (e.g., spinal muscular atrophy) captured in the registry. |
NORD = The National Organization for Rare Disorders; EMA = European Medicines Agency.
Appendix 3: Inventory of Rare Disease Registries Including Canadian Patients
The following presents Table 4 of RDRs in Canada and Table 5 of international RDRs that include patients living in Canada. The information is sourced from the literature and public searches populated up to January 26, 2024, and from a survey of registry holders collected March 20, 2024, to June 10, 2024. During the survey, the registry holders were asked about the number of patients as of March 2024. As information is sourced from public searches and directly from registry holders, the level of detail, availability of information, and timeliness of data varies across the registries. Please note that information may require further validation from registry holders. For any questions, please Registries@CDA-AMC.ca.
Table 4: Canadian Rare Disease Registries (n = 66)
Registry name | Lead organization(s) | Lead contact name and email | Registry websitea | Disease(s) | Age groupb | Number of patients in Canada (date retrieved)b | Coverage in Canada |
|---|---|---|---|---|---|---|---|
Alberta Congenital Anomalies Surveillance System (ACASS) | Vital Statistics, Ministry of Health Ministry of Registries | Health.Surveillance@gov.ab.ca | Multiple congenital anomaliesd | Pediatric | 55,490 (2014) | AB | |
Alpha-1 Canadian Registry | Unclear | info@alpha1canadianregistry.com | Alpha-1 antitrypsin deficiency | NRc | 290 (Dec 2013) | BC, AB, SK, MB, ON, QC, NB, NS, NL, YT, NT | |
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) International Patient Registry | La Fondation de l'Ataxie Charlevoix-Saguenay | ataxie@arsacs.com | Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) | Both | NRc | QC | |
BC Glomerulonephritis (GN) Registry | BC Renal Network; BC GN Network | Sean Barbour, 604-875-5950, Sean.Barbour@vch.ca | http://www.bcrenal.ca/health-professionals/clinical-resources/glomerulonephritis | Glomerulonephritis | Both | NRc | BC |
Brain Tumour Registry of Canada | School of Public Health, University of Alberta | Yan Yuan Yyuan@ualberta.ca and Emily Walker Emily.walker@ulberta.ca | Primary brain tumours | NRc | NRc | NRc | |
CAN-Fever Autoinflammatory Disease Registry | BC Children's Hospital | Lori Tucker, MD 604-875-3678 | No RDR website identified, https://www.bcchr.ca/rheumatology/our-current-research | Autoinflammatory disease | Pediatric | 150 (Mar 2024) | BC |
Chronic recurrent multifocal osteomyelitis | Pediatric | 40 (Mar 2024) | BC | ||||
Canadian Acromegaly Registry | University of Calgary, Lumiio hosts and stores the data | Kirstie Lithgow info@acromegalyregistry.ca and info@lumiio.com | Acromegaly | Adult | NRc | AB, ON, QC, NS | |
Canadian Apheresis Group (CAG) Thrombotic thrombocytopenic purpura (TTP) Registry | Canadian Apheresis Group | Dr Gail Rock cag@cagcanada.ca and Albert Ebidia aebidia@rogers.com | Thrombotic thrombocytopenic purpura | Both | 3,000 (Mar 2024) | All provinces/ territories | |
Canadian Atypical Teratoid Rhabdoid Tumors Registry | Unclear | Lucie Lafay-Cousin lucie.lafay-cousin@ahs.ca | No website identified | Atypical teratoid rhabdoid tumors | Pediatric | 77 (2012) | NRc |
Canadian Biliary Atresia Registry (CBAR) | BC Children's Hospital, Montreal Children's Hospital | Elena Guadagno elena.guadagno@muhc.mcgill.ca and Rick Schreiber | Biliary atresia | Pediatric | 125 (Mar 2024) | BC, AB, ON, QC, NB, NS, NL | |
Canadian Bronchiectasis and Nontuberculous Mycobacteria Database | University of Calgary | Christina Thornton ceshaghu@ucalgary.ca and Julie Jarand julie.jarand@albertahealthservices.ca | No website identified | Bronchiectasis | Adult | 150 (Mar 2024) | AB |
Nontuberculous mycobacteria | Adult | 65 (Mar 2024) | AB | ||||
Canadian Cancer Registry | Unclear | Unclear | https://www23.statcan.gc.ca/imdb/p2SV.pl?Function=getSurvey&SDDS=3207 | Multiple cancers | Both | Uncleare | All provinces |
Canadian Cerebral Palsy Registry | Canadian Cerebral Palsy Registry | Michael Shevell michael.shevell@muhc.mcgill.ca and Maryam Oskoui maryam.oskoui@mcgill.ca | Cerebral palsy | Pediatric | 2,700 (Unclear) | BC, AB, ON, NS, NL | |
Canadian Cystic Fibrosis Registry | Cystic Fibrosis Canada | Stephanie Cheng scheng@cysticfibrosis.ca | Cystic fibrosis | Both | 4,500 (Mar 2024) | All provinces/ territories | |
Canadian Fabry Disease Initiative | Canadian Fabry Disease Initiative Scientific Consortium | Michael L West mlwest@dal.ca and Kaye LeMoine kaye.lemoine@nshealth.ca | http://www.the-cfdi.ca/; https://www.fabrycanada.com/canadian-fabry-disease-initiative/ | Fabry disease | Both | 692 (Mar 2024) | All provinces/ territories |
Canadian Familial Hypercholesterolemia Registry | Familial hyper-cholesterolemia Canada | Jacques Genest isabelle.ruel@affiliate.mcgill.ca and Liam Brun-ham liam.brunham@ubc.ca | Familial chylomicronemia syndrome, lecithin-cholesterol acyltransferase deficiency, Tangier disease, sitosterolemia | Both | NRc | BC, AB, ON, QC, NS | |
Toronto Glomerulonephritis Registry | University Health Network | Heather Reich heather.reich@uhn.ca and Arenn Jauhal arenn.jauhal@uhn.ca | IgA nephropathy | Adult | 600 (Mar 2024) | ON | |
Membranous nephropathy | Adult | 400 (Mar 2024) | ON | ||||
Focal segmental glomerulonephritis | Adult | 400 (Mar 2024) | ON | ||||
Minimal change disease | Adult | 100 (Mar 2024) | ON | ||||
Canadian Homozygous Familial Hypercholesterolemia (HoFH) Registry | McGill; University of BC | Jacques Genest isabelle.ruel@affiliate.mcgill.ca and Liam Brunham liam.brunham@ubc.ca | No website identified | Homozygous familial hypercholesterolemia | Both | 45 (Mar 2024) | BC, MB, ON, QC |
Canadian Inflammatory Myopathy Study (CIMS) | Jewish General Hospital | Marie Hudson, Jewish General Hospital | Dermatomyositis | Adult | 75 (Mar 2024) | BC, MB, ON, QC | |
Polymyositis | Adult | < 6 (Mar 2024) | QC | ||||
Inclusion body myositis | Adult | 20 (Mar 2024) | AB, QC | ||||
Immune-mediated necrotizing myositis | Adult | 10 (Mar 2024) | QC | ||||
Scleromyositis | Adult | 50 (Mar 2024) | QC | ||||
Antisynthetase syndrome | Adult | 40 (Mar 2024) | BC, ON, QC | ||||
Overlap myositis | Adult | 20 (Mar 2024) | QC | ||||
Canadian Morphea Registry (C-MORE) | McGill University Health Centre | Elena Netchiporouk Elena.netchiporouk@mail.mcgill.ca | Morphea | Both | 174 (Mar 2024) | SK, ON, QC | |
Eosinophillic fasciitis | Both | < 6 (Mar 2024) | ON, QC | ||||
Canadian Myelodysplastic syndromes (MDS-CAN) | Sunnybrook Health Sciences Center | Rena Buckstein and Cherry Blushi | Myelodysplastic syndromes | Adult | 1,300 (Mar 2024) | BC, AB, SK, MB, ON, QC, NB, NS | |
Chronic myelomonocytic leukemia | Adult | 100 (Mar 2024) | BC, AB, SK, MB, ON, QC, NB, NS | ||||
Oligoblastic acute myeloid leukemia | Adult | 50 (Mar 2024) | BC, AB, SK, MB, ON, QC, NB, NS | ||||
Canadian National Hypoparathyroidism Registry | McMaster University | Aliya A. Khan aliya@mcmaster.ca | No website identified | Hypoparathyroidism, and subsyndromes | Adult | 130 (Jan 2020) | ON |
Canadian Network for Autoimmune Liver Disease (CaNAL) | Toronto General Hospital; University of Alberta | Gideon Hirschfield gideon.hirschfield@uhn.ca and Andrew Mason am16@ualberta.ca | Autoimmune hepatitis | Adult | 1,780 (Mar 2024) | BC, AB, ON, QC, NS | |
Primary biliary cholangitis | Adult | 3494 (Mar 2024) | BC, AB, ON, QC, NS | ||||
Canadian Neuromuscular Disease Registry (CNDR) | University of Calgary | Lawrence Korngut lwkorngu@ucalgary.ca and Victoria Hodgkinson vhogkin@ucalgary.ca | Spinal muscular atrophy | Both | 364 (Mar 2024) | BC, AB, SK, MB, ON, QC, NB, PE, NS, YT, NT | |
Duchenne muscular dystrophy | Both | 374 (Mar 2024) | All provinces/ territories | ||||
Amyotrophic lateral sclerosis | Both | 2,260 (Mar 2024) | All provinces/ territories | ||||
Limb girdle muscular dystrophy | Both | 200 (Mar 2024) | BC, AB, SK, ON, QC, NB | ||||
Myotonic dystrophy | Both | 578 (Mar 2024) | All provinces/ territories | ||||
Congenital myasthenic syndrome | Both | 14 (Mar 2024) | BC, AB, SK, ON, QC, NB | ||||
Facioscapulohumeral muscular dystrophy | Both | 255 (Mar 2024) | BC, AB, SK, MB, ON, QC, NB, NS | ||||
135 other neuromuscular diseasesf (only diagnosis collected) | Both | 1,635 (Mar 2024) | All provinces/ territories | ||||
Canadian Paroxysmal Nocturnal Hemoglobinuria (PNH) Registryi | Unclear | Christopher Patriquin Christopher.patriquin@medportal.ca and medinfo@alexion.com | Paroxysmal nocturnal hemoglobinuria | Both | 107 (Jan 2018) | BC, AB, ON, QC, NS, NL | |
Canadian Pediatric Neuroinflammatory Disorders Registryg | Hospital for Sick Children, University of Toronto | E. Ann Yeh ann.yeh@sickkids.ca | Pediatric onset multiple sclerosis | Pediatric | 200 (Mar 2024) | All provinces/ territories | |
Myelin oligodendrocyte glycoprotein antibody-associated disease | Pediatric | 200 (Mar 2024) | All provinces/ territories | ||||
Neuromyelitis optica spectrum disorder-seronegative | Pediatric | 20 (Mar 2024) | All provinces/ territories | ||||
Neuromyelitis optica spectrum disorder - aquaporin-4 positive | Pediatric | 10 (Mar 2024) | All provinces/ territories | ||||
Optic neuritis, transverse myelitis, acute necrotizing encephalopathy of childhood, opsoclonus myoclonus syndrome, monophasic acquired demyelinating syndromes | NRc | NRc | NRc | ||||
Canadian Prospective Cohort Study to Under-stand Progression in MS | NRc | a.prat@umontreal.ca | No website identified | Multiple sclerosis | Adult | NRc | BC, AB, ON, QC |
Canadian Pulmonary Hypertension Registry | The University of British Columbia; Vancouver Coastal Health; VGH & UBC Hospital Foundation | Freda Tom freda.tom@vch.ca and Dr. John Swiston swiston@mail.ubc.ca | Pulmonary hypertension | Both | 2,212 (Mar 2024) | BC, AB, MB, ON, QC, NB, NS, NL, YT | |
Canadian Registry for Amyloidosis Research (CRAR) | University of Calgary | Nowell Fine nowell.fine@ahs.ca | Amyloid light-chain light chain amyloidosis | Adult | 100 (Mar 2024) | BC, AB, ON, NS | |
Transthyretin amyloidosis | Adult | 300 (Mar 2024) | BC, AB, ON, NS | ||||
Canadian Registry for Pulmonary Fibrosisg | University of British Columbia | Christopher Ryerson chris.ryerson@hli.ubc.ca | No website identified | Idioapthic pulmonary fibrosis | Adult | 1,200 (Mar 2024) | BC, AB, SK, ON, QC, YT |
Connective tissue disease-associated interstitial lung disease | Adult | 2,000 (Mar 2024) | BC, AB, SK, ON, QC, YT | ||||
Hypersensitivity pneumonitis | Adult | 350 (Mar 2024) | BC, AB, SK, ON, QC | ||||
Unclassified interstitial lung disease | Adult | 1,100 (Mar 2024) | BC, AB, SK, ON, QC, YT | ||||
Drug-induced interstitial lung disease | Adult | 50 (Mar 2024) | BC, AB, SK, ON, QC, YT | ||||
Sarcoidosis | Adult | 200 (Mar 2024) | BC, AB, SK, ON, QC, YT | ||||
Asbestosis | Adult | 30 (Mar 2024) | BC, AB, SK, ON, QC | ||||
Silicosis | Adult | 20 (Mar 2024) | BC, AB, SK, ON, QC, YT | ||||
Post-COVID pulmonary fibrosis | Adult | 50 (Mar 2024) | BC, AB, SK, ON, QC, YT | ||||
Cryptogenic organizing pneumonia | Adult | 50 (Mar 2024) | BC, AB, SK, ON, QC, YT | ||||
Canadian Rett Syndrome Registry | ON Rett Syndrome Association | info@rett.ca | Rett syndrome | NRc | NRc | NRc | |
Canadian Sarcoma Research and Clinical Collaboration (CanSaRCC) | University Health Network | Dr. Abha Gupta Abha.Gupta@uhn.ca and Dr. Hagit Peretz Soroka Hagit.Peretz@uhn.ca | Sarcoma | Both | 4,250 (2023) | BC, AB, SK, MB, ON, QC, NS, NL | |
Canadian Scleroderma Research Group | St Joseph's Health care Hamilton; Canadian Scleroderma Research Group | Maggie Larche 905-528-0489 and Stephanie Densmore-Farnworth 905-528-0489 | Systemic sclerosis | Both | 1,570 (Mar 2024) | BC, AB, SK, MB, ON, QC, NB, NS, NL | |
Scleroderma | Both | 150 (Mar 2024) | AB, MB, ON, QC, NB, NS | ||||
Canadian Vasculitis Network (CanVasc) Registry | Canadian Vasculitis Network | Lillian Barra Lillian.Barra@sjhc.london.on.ca | Vasculitisj | Adult | 425 (June 2024) | NRc | |
Cancer in Young People in Canada (CYP-C) | C17 Council; Public Health Agency of Canada | Randy Barber randy.barber@c17.ca | Pediatric cancers | Pediatric | 13,500 (Mar 2024) | All provinces/ territories | |
CAN-OPTICS: the Canadian Neuromyelitis Optica Spectrum Disorder and other atypical demyelinating diseases Cohort Study | Unity Health Toronto | Dr. Dalia Rotstein 416-864-5660 | No website identified | Seropositive neuromyelitis optica spectrum disorder | Adult | 135 (Mar 2024) | BC, AB, MB, ON, NS |
Seronegative neuromyelitis optica spectrum disorder | Adult | 15 (Mar 2024) | AB, MB, ON, NS | ||||
Myelin oligodendrocyte glycoprotein antibody disease | Adult | 85 (Mar 2024) | BC, AB, MB, ON, NS | ||||
Glial fibrillary acidic protein encephalomyelitis | Adult | < 6 (Mar 2024) | BC, AB, MB, ON, NS | ||||
Clinical Von Hippel-Lindau disease (VHL) Database | University Health Network | Raymond Kim raymond.kim@uhn.ca | No website identified | Von Hippel-Lindau disease | Both | 86 (2019) | ON |
Discovering the Periodic Fever Syndrome Population at Hamilton Health Sciences | Hamilton Health Sciences | Liane Heale healel@mcmaster.ca | No website identified | PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis) | Pediatric | 14 (Mar 2024) | ON |
Familial Mediterranean fever | Both | 17 (Mar 2024) | ON | ||||
Deficiency of adenosine deaminase 2 | Pediatric | < 6 (Mar 2024) | ON | ||||
Yao syndrome | Adult | < 6 (Mar 2024) | ON | ||||
Behcet's disease | Pediatric | < 6 (Mar 2024) | ON | ||||
NLRP3-associated auto-inflammatory syndrome | Pediatric | < 6 (Mar 2024) | ON | ||||
SURF (syndrome of undifferentiated recurrent fever) | Both | 6 (Mar 2024) | ON | ||||
Fighting Blindness Canada Inherited Retinal Disease Patient Registryg | The Hospital for Sick Children | Elise Heon elise.heon@sickkids.ca and Larissa Moniz lmoniz@fightingblindness.ca | Retinitis pigmentosa | Both | 1,147 (Mar 2024) | BC, AB, SK, MB, ON, QC, NB, PE, NS, NL, YT, NT | |
Stargardt's disease | Both | 236 (Mar 2024) | BC, AB, SK, ON, QC, NS, NT | ||||
Usher syndrome | Both | 175 (Mar 2024) | BC, AB, SK, ON, QC, NB, NS | ||||
Leber congenital amaurosis | Both | 133 (Mar 2024) | BC, AB, SK, MB, ON, QC, NS | ||||
Cone-rod dystrophy | Both | 92 (Mar 2024) | BC, AB, SK, ON, QC, NB, PE, NS | ||||
Achromatopsia | Both | 73 (Mar 2024) | BC, AB, ON, QC, NB, NS | ||||
Choroideremia | Both | 69 (Mar 2024) | BC, AB, MB, ON, QC, NS | ||||
Retinoschisis | Both | 57 (Mar 2024) | BC, AB, SK, ON | ||||
Congenital stationary night blindness | Both | 55 (Mar 2024) | BC, AB, SK, ON, QC, PE, YT | ||||
Rod-cone dystrophy | Both | 35 (Mar 2024) | BC, AB, ON, NB, NL | ||||
Genetic Studies of Chronic Kidney Diseaseg | University of BC, Providence Health Research | Dr. Mark Elliott melliott1@providencehealth.bc.ca | Genetic chronic kidney diseasesk | Both | 1,076 (Jan 2020) | BC | |
Genodermatoses Registryg | The Hospital for Sick Children | Irene Lara-Corrales irene.lara-corrales@sickkids.ca and Yiming Wang yiming.wang@sickkids.ca | No website identified | Ichthyosis (multiple) | Pediatric | 8 (Mar 2024) | ON |
Skin fragility disorders | Pediatric | < 6 (Mar 2024) | ON | ||||
Palmoplantar keratodermas | Pediatric | 7 (Mar 2024) | ON | ||||
Pigmentary disorders | Pediatric | 8 (Mar 2024) | ON | ||||
Ectodermal dysplasias | Pediatric | < 6 (Mar 2024) | ON | ||||
Cancer predisposition syndromes | Pediatric | < 6 (Mar 2024) | ON | ||||
Hair disorders | Pediatric | < 6 (Mar 2024) | ON | ||||
Nail disorders | Pediatric | < 6 (Mar 2024) | ON | ||||
Photosensitive syndromes | Pediatric | 6 (Mar 2024) | ON | ||||
Other rare genetic skin disorders | Pediatric | 40 (Mar 2024) | ON | ||||
KidCOM | The Hospital for Sick Children; Nationwide Children's Hospita | Christoph Licht christoph.licht@sickkids.ca and William E. Smoyer william.smoyer@nationwidechildrens.org | No website identified | Atypical hemolyticuremic syndrome | Both | 40 (Mar 2024) | BC, AB, ON, QC |
IC-membranoproliferative glomerulonephritis/C3 glomerulopathy | Both | 80 (Mar 2024) | BC, AB, ON, QC | ||||
Mastocytosis Assessment and Treatment Evaluation Registry | McGill University Health Centre | Greg Shand masterstudymch@gmail.com | https://www.mastocytosis.ca/en/get-involved/join-the-mastocytosis-registry | Mastocytosis | Both | 23 (Feb 2020) | NRc |
Mito Canada Patient Registryg | Lumiio | Kate Murray Kate.Murray@MitoCanada.org | https://mitocanada.org/patient-contact-registry/; https://mitocanada.lumiio.com/home | MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) | Both | 14 (Mar 2024) | AB, ON, NL |
Leigh syndrome | Pediatric | < 6 (Mar 2024) | ON | ||||
CPEO (chronic progressive external ophthalmoplegia) | Adult | 6 (Mar 2024) | BC, ON, NB | ||||
Complex IV/COX (cytochrome c oxidase) deficiency | Both | < 6 (Mar 2024) | AB, ON | ||||
MIDD (maternally inherited diabetes and deafness) | Adult | < 6 (Mar 2024) | BC, ON | ||||
MERFF (myoclonic epilepsy with ragged red fibers) | Adult | < 6 (Mar 2024) | BC, ON | ||||
Progressive external ophthalmoplegia | Adult | < 6 (Mar 2024) | BC, AB | ||||
Lactic acidosis | Both | 6 (Mar 2024) | AB, ON | ||||
MNGIE (mitochondrial neurogastrointestinal encephalopathy) | Adult | < 6 (Mar 2024) | BC | ||||
Mitochondrial encephalopathy | Both | < 6 (Mar 2024) | ON | ||||
Myeloma Canada Research Network (MCRN) Canadian Multiple Myeloma Database | Canadian Myeloma Research Group | info@cmrg.ca | Multiple myeloma | Both | 8,387 (2014) | BC, AB, SK, MB, ON, QC, NB, NS, NL | |
Myeloproliferative Neoplasms Patient Registry | University Health Network | Vikas Gupta vikas.gupta@uhn.ca | No website identified | Myeloproliferative neoplasms | Both | 5,000 (2023) | ON |
National Hearts in Rhythm Organization (HiRO) Registryg | University of British Columbia | Dr. Andrew Krahn akrahn@mail.ubc.ca and Brianna Davies BDavies@providencehealth.bc.ca | Unexplained cardiac arrest syndromes | Both | 513 (Mar 2024) | BC, AB, MB, ON, QC, NS | |
Sudden arrhythmogenic death syndrome | Both | 35 (Mar 2024) | BC, AB, MB, ON, QC, NS | ||||
Arrhythmogenic right ventricular cardiomyopathy | Both | 700 (Mar 2024) | BC, AB, MB, ON, QC, NS | ||||
Long QT syndrome | Both | 1,388 (Mar 2024) | BC, AB, MB, ON, QC, NS | ||||
Brugada syndrome | Both | 483 (Mar 2024) | BC, AB, MB, ON, QC, NS | ||||
Catecholaminergic polymorphic ventricular tachycardiac | Both | 119 (Mar 2024) | BC, AB, MB, ON, QC, NS | ||||
Calcium release deficiency syndrome | Both | < 6 (Mar 2024) | BC, AB, MB, ON, QC, NS | ||||
Short QT syndrome | Both | < 6 (Mar 2024) | BC, AB, MB, ON, QC, NS | ||||
Hypertrophic cardiomyopathy | Both | 181 (Mar 2024) | BC, AB, MB, ON, QC, NS | ||||
Dilated cardiomyopathy | Both | 73 (Mar 2024) | BC, AB, MB, ON, QC, NS | ||||
Orphan Disease Center CDKL5 Deficiency Disorder International Patient Registryh | Not Applicable | Daniel J. Lavery | https://www.cdkl5.com/cdkl5-international-registry-database/ | CDKL5 deficiency disorder | Both | NRc | NRc |
Pediatric Neurofibromatosis Registry | The Hospital for Sick Children | Dr. Patricia Parkin patricia.parkin@sickkids.ca and Keenjal Mistry keenjal.mistry@sickkids.ca | No website identified | Neurofibromatosis type 1 | Pediatric | 1,500 (Mar 2024) | ON |
Pediatric Oncology Group of ON Networked Information System (POGONIS) | Pediatric Oncology Group of ON (POGO) | Bruna DiMonte bdimonte@pogo.ca | https://www.pogo.ca/research-data/pogonis-childhood-cancer-database/data-anatomy/ | Pediatric cancers | Pediatric | 19,900 (2020) | ON |
Prospective Longitudinal Study to Assess Long-Term Safety of Treatments and the Epidemiology of Bleeding in Immune Thrombocytopenia | McMaster University Michael G. DeGroote Centre for Trans-fusion Research | Dr. Donald Arnold arnold@mcmaster.ca | No website identified | Immune thrombocytopenia | Both | 1,065 (Mar 2024) | ON |
Province of ON Neurodevelopmental Disorders (POND) Network OBI: POND Registry | Unclear | Alana Iaboni aiaboni@hollandbloorview.ca | https://pond-network.ca/areas-of-study/, https://braininstitute.ca/year-in-review/advancing-knowledge-22 | Attention-deficit/hyperactivity disorder, autism spectrum disorder, intellectual disability, obsessive-compulsive disorder, Tourette syndrome, Rett syndrome, Down syndrome, fragile X syndrome, Other | Pediatric | 2,000 (May 2021) | ON |
QC congenital heart disease registry | Université de Sherbrooke | Frédéric Dallaire frederic.a.dallaire@usherbrooke.ca | https://ccpcrn.ca/portfolio/the-QC-congenital-heart-disease-registry/ | Congenital heart malformations | Both | 54,000 (Mar 2024) | QC |
QC Myotonic Dystrophy Registry/ Registre québécois sur la dystrophie myotonique de type 1 Q-DMR | CIUSSS du Saguenay-Lac-Saint-Jean | Jean Mathieu and Cynthia Gagnon cynthia5_gagnon@uqac.ca | No website identified | Myotonic dystrophy | Both | 1,410 (June 2023) | QC |
QC Trophoblastic Disease Network | Réseau des Maladies Trophoblastiques du Québec (RMTQ) | Catherine De RAVINEL catherine.de.ravinel.chum@ssss.gouv.qc.ca | Trophoblastic diseases | NRc | 925 (Dec 2019) | QC | |
Registry of Rare Diseases in Pregnancy (Groupe d'etude en medecine obstetricale du Québéc) | Groupe d’étude en médecine obstétricale du QC (QEMOQ) | Lucie Terriault 514-350-5118 | Rare medical conditions in pregnancy | Both | NRc | QC | |
SickKids Lupus Registry | The Hospital for Sick Children | Linda Hiraki linda.hiraki@sickkids.ca | No website identified | Childhood-onset systemic lupus erythematosus | Pediatric | 250 (Mar 2024) | ON |
Secondary hemophagocytic lymphohistiocytosis/ macrophage activation syndrome | Pediatric | 25 (Mar 2024) | ON | ||||
Monogenic lupus | Pediatric | 20 (Mar 2024) | ON | ||||
Southern Alberta Registry for Systemic Lupus Erythematosus: STARLET | University of Calgary | Dr. Ann Clarke aeclarke@ucalgary.ca | Systemic lupus erythematosus | Adult | 450 (Mar 2024) | AB | |
STXBP1.CA | BC Children's Hospital | Cyrus Boelman Cyrus.boelman@cw.bc.ca | STXBP1 encephalopathy | Both | 25 (Mar 2024) | All provinces/ territories | |
The Canadian Alliance of Pediatric Rheumatology Investigators Juvenile Idiopathic (CAPRI) Registry | University of British Columbia | Jaime Guzman jguzman@cw.bc.ca | No RDR website identified, https://www.bcchr.ca/rheumatology/our-current-research | Oligoarthritis | Pediatric | 521 (Mar 2024) | All provinces/ territories |
Polyarthritis rheumatoid factor negative | Pediatric | 218 (Mar 2024) | All provinces/ territories | ||||
Polyarthritis rheumatoid factor positive | Pediatric | 41 (Mar 2024) | All provinces/ territories | ||||
Enthesitis related arthritis | Pediatric | 169 (Mar 2024) | All provinces/ territories | ||||
Psoriatic arthritis | Pediatric | 69 (Mar 2024) | All provinces/ territories | ||||
Systemic arthritis | Pediatric | 54 (Mar 2024) | All provinces/ territories | ||||
Undifferentiated juvenile arthritis | Pediatric | 76 (Mar 2024) | All provinces/ territories | ||||
The Canadian Bleeding Disorders Registry (CBDR) | Association of Hemophilia McMaster | Alfonso Iorio iorioa@mcmaster.ca and Arun Keepanasseril keeppaa@mcmaster.ca | Hemophilia, Von Willebrand disease, rare coagulation factor deficiencies | Both | 3,200 (2021) | All provinces | |
The Canadian Inherited Marrow Failure Registry (CIMFR) | The Hospital for Sick Children | Bozana Zlateska cimf.registry@sickkids.ca and Yigal Dror yigal.dror@sickkids.ca | https://www.sickkids.ca/en/care-services/clinical-departments/cimfr/ | More than 30 inherited bone marrow failure syndromes | Both | 600 (Unclear) | NRc |
The Canadian Inherited Metabolic Diseases Network (CIMDRN) | Children’s Hospital of Eastern ON Research Institute, INFORM RARE | Beth Potter bpotter@uottawa.ca and informrare@uottawa.ca | Inherited metabolic diseasesl | Pediatric | 798 (June 2019) | BC, AB, MB, ON, QC, NS, NL | |
The Canadian Mucopolysaccharidosis Registry | CHEO Research Institute | Emma Lynn elynn@cheo.on.ca | Mucopolysaccharide and related diseases | Pediatric | 17 (Mar 2024) | All provinces/ territories | |
The University Health Network and SickKids Hospital Neurofibromatosis type 1 Registry | University Health Network; The Hospital for Sick Children | Carolina Barnett-Tapia c.barnetttapia@utoronto.ca and Patricia Parkin patricia.parkin@sickkids.ca | No website identified | Neurofibromatosis type 1 | Both | 1200 (Mar 2024) | ON |
Toronto Hereditary Hemorrhagic Telangiectasia Database | St Michael's Hospital, Unity Health Toronto | Marie Faughnan marie.faughnan@unityhealth.to and Negar Bagheri Negar.bagheri@unityhealth.to | No website identified | Hereditary hemorrhagic telangiectasi | Adult | 1400 (Mar 2024) | All provinces/ territories |
AB = Alberta; BC = British Colombia; Dec = December; Jan = January; Mar = March; MB = Manitoba; NB = New Brunswick; NL = Newfoundland and Labrador; NR = not reported or not available; NS = Nova Scotia; NT = Northwest Territories; NU = Nunavut; ON = Ontario; PE = Prince Edward Island; PROMIS = Patient Records and Outcome Management Information System; QC = Quebec; RDR = rare disease registry; SK = Saskatchewan; YT = Yukon.
aWebsites sourced from publicly available information.
bAmong registries captured from the literature search, information is available overall, and not per disease.
cNot reported or available because of reliance on information available in the literature or a public search or partial completion of the registry holder survey. If the registry holder did not complete information, literature and/or public search information was inputted if available.
dMultiple congenital anomalies, including neural tube defects, anencephaly, spina bifida, anotia or microtia, orofacial clefts, cleft lip with or without cleft palate, cleft palate only, anorectal malformations, congenital heart defect, transposition of the great arteries, tetralogy of Fallot, ventricular septal defect, atrial septal defect, hypoplastic left heart syndrome, hypospadias, undescended testes, limb reduction, gastroschisis, omphalocele, Down syndrome, and other congenital anomalies.
eThe Canadian Cancer Registry includes at least 1,000,000,000 individuals diagnosed with cancer; however, the total number of individuals with rare cancers is unclear.
fCNDR collects diagnosis (no clinical data) for 135 other neuromuscular disorders, including autosomal dominant paramyotonia congenita (SCN4A), congenital myopathy (unspecified), hereditary inclusion body myopathy, Kearns-Sayre syndrome, King-Denborough syndrome, mitochondrial myopathy, myotonia congenita — Thomsen disease, nondystrophic myotonia, paramyotonia congenita, phosphorylase deficiency (McArdles Disease), primary myopathy, PTEN myopathy, rippling muscle disease, RYR1-related myopathy, X-linked myopathy with excessive autophagy, congenital muscular dystrophy, congenital muscular dystrophy, merosin deficient, manifesting dystrophinopathy carrier, muscular dystrophy (unspecified), oculopharyngeal muscular dystrophy, titinopathy, dermatomyositis, inclusion body myositis, polymyositis, Lambert-Eaton syndrome, myasthenia gravis (all types), myasthenic syndrome, Charcot-Marie-Tooth disease (all types), Dejerine-Sottas disease, Freidreich ataxia, hereditary motor and sensory neuropathy with agenesis of the corpus callosum (Andermann syndrome), hereditary neuralgia amyotrophy, hereditary neuropathy with liability to pressure palsies, hereditary sensory autonomic neuropathy type IV, hereditary sensory neuropathy type 1, syndrome of neuropathy ataxia and retinitis pigmentosa, Tangier disease, diabetic neuropathy, glucose intolerance neuropathy, idiopathic neuropathy, neuropathy (unspecified), peripheral neuropathy (unclassified), chronic inflammatory demyelinating polyneuropathy, Guillain-Barré syndrome, Miller Fisher syndrome, multifocal motor neuropathy, acquired neuromyotonia (Isaacs syndrome), POEMS neuropathy, Sjogren peripheral neuropathy, vasculitis, polyneuropathy, sensory polyneuropathy, small fibre peripheral neuropathy, motor neuron disease (unspecified), primary lateral sclerosis, progressive muscular atrophy, spinal bulbar muscular atrophy, post-polio syndrome, Andersen Tawil syndrome, hyperkalemic periodic paralysis, hypokalemic periodic paralysis, hereditary spastic paraparesis, human T-cell lymphotropic virus type 1–associated myelopathy or tropic spastic paraparesis, myofibrillar myopathy (LDB3), stiff person syndrome, adrenoleukodystrophy, amyoplasia, arthrogryposis, autosomal recessive spastic ataxia of charlevoix-saguenay, D-bifunctional protein deficiency, Freeman-Sheldon syndrome, metabolic ataxia, Poland syndrome, spinal atrophy and paraplegia, and spinocerebellar ataxia.
gDuring the survey with registry holders, registries with more than 10 rare diseases were instructed to enter data for the 10 most prevalent diseases at this stage.
hRegistry holder reported registry as a registry in Canada.
iPlease note that there is also an International PNH Registry (funded by Alexion Pharmaceuticals), which will soon be rolling into an academic-run broader registry under the auspices of the International PNH Interest Group, which will permit all patients with PNH regardless of therapeutic (e.g., those not made by Alexion) to join to be broader and more representative of the current PNH treatment landscape.
jMultiple types of vasculitis, including giant cell arteritis, Takayasu arteritis, polyarteritis nodosa, Behcet disease, Cogan disease, relapsing polychondritis, antineutrophilic cytoplasmic antibody–associated vasculitis, IgA vasculitis, cryoglobulinemic vasculitis, cutaneous limited vasculitis, hypocomplementemic vasculitis, primary angiitis of the central nervous system IgG4-related disease, and secondary vasculitis.
kGenetic chronic kidney diseases, including Alport syndrome, autosomal dominant polycystic kidney disease, chronic kidney disease of unknown etiology, CUBN-associated proteinuria, genetic focal segmental glomerulosclerosis, autosomal dominant tubulointerstitial kidney disease, genetic tubular disorders, C3 glomerulopathy and thrombotic microangiopathy, cystic kidney disease, and APOL1-assocaited kidney disease.
lInherited metabolic diseases, including phenylalanine hydroxylase deficiency, homocystinuria, maple syrup urine disease, tyrosinemia, arginase deficiency, argininosuccinic acidemia, carbamoyl phosphate synthetase deficiency, citrin deficiency, citrullinemia, hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, N-acetylglutamate synthetase deficiency, ornithine transcarbamylase deficiency, beta-ketothiolase deficiency, glutaric acidemia type I, hydroxymethylglutaryl-CoA lyase deficiency, isovaleric academia, 3-methylcrotonyol-CoA carboxylase deficiency, methylmalonic acidemias, propionic acidemia, medium-chain acyl-CoA dehydrogenase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, carnitine uptake defect, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, trifunctional protein deficiency, guanidinoacetate methyltransferase deficiency, mucopolysaccharidosis type I, Farber disease, galactosemia, glycogen storage disease type I, multiple carboxylase deficiency or biotinidase deficiency, and pyridoxine-dependent epilepsy.
Table 5: International Rare Disease Registries Including Patients Living in Canada (n = 82)
Registry name | Lead organization(s) | Lead contact name and email | Registry websitea | Disease(s) | Age groupb | Number of patients internationally (date retrieved) | Number of patients in Canada (date retrieved)b | Coverage in Canadab |
|---|---|---|---|---|---|---|---|---|
Alpha-1 International Registry | Unclear | Robert Stockley r.a.stockley@bham.ac.uk | No website identified | Alpha-1 antitrypsin deficiency | Both | 4,615 (2014) | 290 (Dec 2013) | BC, AB, SK, MB, ON, QC, NB, NS, NL, YT, NT |
APS ACTION International Clinical Database and Repository | APS ACTION | JoAann Vega vegaj@hss.edu | Antiphospholipid syndrome | Adult | 1,300 (2022) | 31 (Feb 2022) | AB, QC | |
Autosomal Recessive Cerebellar Ataxia Global Registry | Unclear | Matthis Synofzik matthis.synofzik@uni-tuebingen.de | No website identified | Autosomal recessive cerebellar ataxia (ARCA) | Both | 800 (2021) | NRc | QC |
Barth Syndrome Registry and Repository | Barth Syndrome Foundation | Melissa Huang melissa.huang@barthsyndrome.org | Barth syndrome | Both | 148 (Mar 2024) | 12 (Mar 2024) | BC, AB, SK, ON, QC | |
Brain Vascular Malformation Consortium (BVMC) | Rare Diseases Clinical Research Network | rd.dmcc@cchmc.org | Brain vascular malformations | Both | 33 (Dec 2011) | NRc | ON | |
Canadian Cholangiocarcinoma Collaborative Registry | Ottawa Hospital Research Institute | Rebecca Auer rauer@toh.ca | Cholangiocarcinoma | Adult | 30 (Mar 2024) | 30 (Mar 2024) | All provinces | |
CDKL5 International Patient Registry | University of Pennsylvania Perelman School of Medicine, the Orphan Disease Center and University of Western Australia | odcregistry@pennmedicine.upenn.edu and info@cdkl5canada.ca | https://www.cdkl5canada.ca/cdkl5-international-patient-registry | CDKL5 deficiency disorder | Pediatric | NRc | NRc | NRc |
Clinical Research Consortium for the Study of Cerebellar Ataxia (CRC-SCA) | National Ataxia Foundation and Ataxia Canada | Laura Crespo laura@ataxia.org and Francois-Olivier Theberge francois.theberge@lacaf.org | SCA2 | Adult | 204 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | |
SCA3 | Adult | 345 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | ||||
SCA6 | Adult | 168 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | ||||
SCA7 | Adult | 26 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | ||||
SCA8 | Adult | 42 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | ||||
Consortium for Clinical Investigation of Neurologic Channelopathies | Rare Diseases Clinical Research Network Patient Contact Registry | Richard Barohn, University of Missouri | Neurologic channelopathies | NRc | NRc | NRc | ON | |
CoRDS Ataxia Patient Registryd | National Ataxia Foundation and Sanford Research | Lauren Moore lauren@ataxia.org and Alyssa Mendel alyssa.mendel@sanfordhealth.org | SCA2 | Adult | 110 (Mar 2024) | 15 (Mar 2024) | All provinces/ territories | |
SCA3 | Adult | 258 (Mar 2024) | 14 (Mar 2024) | All provinces/ territories | ||||
SCA (Unknown Subtype) | Adult | 150 (Mar 2024) | 11 (Mar 2024) | All provinces/ territories | ||||
SCA6 | Adult | 185 (Mar 2024) | 8 (Mar 2024) | All provinces/ territories | ||||
SCA8 | Adult | 75 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | ||||
Friedreich ataxia | Adult | 73 (Mar 2024) | 6 (Mar 2024) | All provinces/ territories | ||||
Episodic Ataxia | Adult | 54 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories, | ||||
SCA1 | Adult | 74 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | ||||
SCA5 | Adult | 27 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | ||||
SCA7 | Adult | 30 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | ||||
Diamond Blackfan Anemia Registry | Feinstein Institutes for Medical Research at Northwell Health | Adrianna Vlachos 516-562-1505 | Diamond Blackfan anemia | Both | 877 (Mar 2024) | 54 (Mar 2024) | BC, AB, SK, MB, ON, QC, NS, NL | |
EBCare Patient Insights Network | Unclear | Unclear | Epidermolysis bullosa | Both | 214 (2022) | 10 (2022) | NRc | |
Eosinophilic gastrointestinal disease Partners | University of North Carolina at Chapel Hill School of Medicine | info_egidpartners@unc.edu | Eosinophilic gastrointestinal disease (EGID) | Both | 694 (Jan 2024) | 19 (Jan 2024) | ON | |
Enroll-HD | Unclear | Noopur Modi Info@Enroll-HD.org | Huntington disease | Adult | 20,000 (2023) | NRc | BC, AB, ON, QC, NS | |
Fibrodysplasia Ossificans Progressiva Registry | Inter-national Fibrodysplasia Ossificans Progression Association (IFOPA) | Samantha Kile sammi.kile@ifopa.org and Michelle Davis michelle.davis@ifopa.org | Fibrodysplasia Ossificans Progressiva | Both | 355 (Mar 2024) | 9 (Mar 2024) | ON, NT | |
Frontotemporal Degeneration (FTD) Disorders Registrye | FTD Disorders Registry, LLC | Lakecia Vincent lvincent@ftdregistry.org and Carrie Milliard cmilliard@ftdregistry.org | Frontotemporal dementia/ Behavioural variant | Adult | 1,225 (Mar 2024) | 19 (Mar 2024) | BC, ON, QC | |
Progressive Supranuclear Palsy | Adult | 184 (Mar 2024) | < 6 (Mar 2024) | ON | ||||
FTD with motor neuron disease | Pediatric | 84 (Mar 2024) | < 6 (Mar 2024) | BC, ON | ||||
Primary Progressive Aphasia | Adult | 420 (Mar 2024) | 6 (Mar 2024) | ON, NS | ||||
Fungi-Scope | Unclear | Unclear | Invasive fungal infections | Both | 1,268 (2021) | NRc | NRc | |
Genetic Disorders of Mucociliary Clearance Consortium | Rare Diseases Clinical Research Network Patient Contact Registry | Kelli Sullivan Kelli_Sullivan@med.unc.edu, 919-962-9786 | Primary ciliary dyskinesia, primary immunedeficiencies, pseudohypo-aldosteronism, nontuberculous mycobacterium pulmonary disease, cystic fibrosis, idiopathic bronchiectasis | Both | 534 (Sep 2012) | NRc | ON, QC | |
Genetic of Intellectual Disability and Autism Spectrum Disorders (GENiDA)d | Université de Strasbourg | Pauline Burger burgerp@igbmc.fr and Jean-Louis Mandel jlmandel@igbmc.fr | Koolen-de Vries syndrome | Both | 276 (Mar 2024) | < 6 (Mar 2024) | Does not capture | |
Kleefstra syndrome | Both | 219 (Mar 2024) | 7 (Mar 2024) | Does not capture | ||||
DDX3X syndrome | Both | 63 (Mar 2024) | < 6 (Mar 2024) | Does not capture | ||||
KBG syndrome | Both | 56 (Mar 2024) | < 6 (Mar 2024) | Does not capture | ||||
MED13L syndrome | Both | 47 (Mar 2024) | < 6 (Mar 2024) | Does not capture | ||||
MECP2 duplication syndrome | Both | 46 (Mar 2024) | < 6 (Mar 2024) | Does not capture | ||||
SETD5 syndrome | Both | 37 (Mar 2024) | < 6 (Mar 2024) | Does not capture | ||||
DYRK1A syndrome | Both | 33 (Mar 2024) | < 6 (Mar 2024) | Does not capture | ||||
White-Sutton syndrome | Both | 32 (Mar 2024) | < 6 (Mar 2024) | Does not capture | ||||
Wiedemann-Steiner syndrome | Both | 32 (Mar 2024) | < 6 (Mar 2024) | Does not capture | ||||
Global Angelman Syndrome Registry | Unclear | curator@angelmanregistry.info | Angelman syndrome | Both | 2,333 (Unclear) | 115 (Unclear) | NRc | |
Global Dystonia Registry | Invitae | Unclear | Dystonia | NRc | 6,500 (2024) | NRc | NRc | |
Global Mucopoly-saccharidosis type I (MPS 1) Registry | Sanofi | Contact-Us@sanofi.com and help@MPSIRegistry.com | Mucopolysaccharidosis type I syndromes | Both | 1,500 (May 2023) | NRc | BC, AB, MB, ON, QC, NB | |
Global Patient Registry for Smith-Kingsmore Syndrome | Coordination of Rare Diseases at Sanford; Smith-Kingsmore Syndrome Foundation | Sarah Lepore Sarah.lepore@smithkingsmore.org | Smith-Kingsmore Syndrome | Both | 80 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | |
Global Prader-Willi Syndrome (PWS) Registry | National Organization for Rare Disorders; Foundation for Prader-Willi Research | Aliza Fink aliza.fink@nord.com and Theresa Strong jessica.bohonowych@fpwr.org | Prader-Willi Syndrome | Both | 1,936 (Mar 2024) | 179 (Mar 2024) | BC, AB, ON, QC, NB, NS | |
GNAO1 International Registry | Invitae, The Bow Foundation | Emily@bowfoundation.org | GNAO1-related neurodevelopmental disorders | Both | 63 (2020) | < 6 (2020) | NRc | |
Hyperinsulinism International Global Registry (HIGR) | Congenital Hyperinsulinism International | Lauren Lopez llopez@congenitalhi.org and Tai Pasquini tpasquini@congenitalhi.org | Congenital hyperinsulinism | Both | 500 (Mar 2024) | 20 (Mar 2024) | BC, SK, ON, QC | |
International Diffuse intrinsic pontine glioma (DIPG)/ diffuse midline glioma (DMG) Registry | Cincinnati Children’s Hospital Medical Center (CCHMC) | referrals@dipgregistry.org | Diffuse intrinsic pontine glioma, diffuse midline glioma | Both | 1,100 (2018) | NRc | NRc | |
International Fabry Registry | Genzyme (a Sanofi company) | Contact-Us@sanofi.com | Fabry disease | Both | 9,000 (Jul 2023) | NRc | BC, AB, MB, ON, QC, NB, NS, NL | |
International Family Registry for Centronuclear and Myotubular Myopathies | Myotubular Trust | connect@joshuafrase.org | Centronuclear and myotubular myopathies | Both | 444 (2023) | 7 (2023) | NRc | |
International Fanconi Anemia Registry | The Rockefeller University | Agata Smogo-rzewska MDPhD Asmogorzewska@rockefeller.edu | Fanconi anemia | Both | NRc | NRc | NRc | |
International Fragile X Premutation Registry | UC Davis MIND Institute, National Fragile X Foundation | hilary@fragilex.org (202) 747-6207 | https://fragilex.org/our-research/projects/premutation-registry/ | Fragile X syndrome | Adult | 747 (2022) | 16 (2022) | NRc |
International Gaucher Registry | Unclear | Dr Aneal Khan khaa@ucalgary.ca and Contact-Us@sanofi.com | https://www.gaucherdisease.org/blog/medical-history-international-gaucher-registry/ | Gaucher disease, cerebroside lipidosis syndrome, glucocerebrosidase deficiency disease, glucosylceramide beta-glucosidase deficiency disease | NRc | NRc | NRc | AB |
International GNE Myopathy Registry | John Walton Muscular Dystrophy Research Centre at Newcastle University | gnem@newcastle.ac.uk | Hereditary inclusion body myopathy, quadriceps-sparing myopathy, Nonaka myopathy, inclusion body myopathy type 2 | Adult | 269 (Oct 2016) | < 6 (Oct 2016) | ON | |
International Hereditary Thrombotic Thrombocytopenic Purpura Registry | Hematology and Central Hematological Laboratory, Inselspital Bern University Hospital, University of Bern | Johanna A. Kremer Hovinga johanna.kremer@insel.ch and Marissa Schraner marissa.schraner@insel.ch | Hereditary thrombotic thrombocytopenic purpura | Both | 265 (Mar 2024) | < 6 (Mar 2024) | AB, ON | |
International Kawasaki Disease Registry (IKDR) | Unclear | Brian W. McCrindle brian.mccrindle@sickkids.ca | No website identified | Kawasaki disease | Both | NRc | NRc | ON, QC |
International LGDA Registry for Complex Lymphatic Anomalies | Lymphangiomatosis & Gorham's Disease Alliance (LGDA) | coordinator@lgdaregistry.org | https://lgdalliance.org/patients-caregivers/patient-registry.html | Lymphatic anomalies | Both | 464 (2014) | NRc | NRc |
International Niemann-Pick Disease Registry | International Niemann Pick Disease Registry; OpenApp Ltd, Dublin, Ireland | Conan Donnelly conan.donnelly@inpdr.org | Niemann-Pick Type C | Both | 330 (Mar 2024) | 9 (Mar 2024) | ON | |
Acid sphingomyelinase deficiency | Both | 100 (Mar 2024) | < 6 (Mar 2024) | ON | ||||
International Pachyonychia Congenita Research Registryd | Pachyonychia Congenita Project | Janice Schwartz jan.schwartz@pachyonychia.org and Holly Evans holly.evans@pachyonychia.org | K6a, K6b, K6c, K16, K17 Pachyonychia Congenita | Both | 1,190 (Mar 2024) | 41 (Mar 2024) | BC, AB, SK, ON, QC | |
TRPV3/ Olmsted Syndrome | Both | 17 (Mar 2024) | 0 (Mar 2024) | All provinces/ territories | ||||
DSG1-desmoglien | Both | 22 (Mar 2024) | 0 (Mar 2024) | BC | ||||
DSP-desmoplakin | Both | < 6 (Mar 2024) | 0 (Mar 2024) | All provinces/ territories | ||||
GJB2-Connexin 26 | Both | < 6 (Mar 2024) | 0 (Mar 2024) | All provinces/ territories | ||||
GJB6-Connexin 30 | Both | 33 (Mar 2024) | 0 (Mar 2024) | All provinces/ territories | ||||
RHBDF2-Tylosis with esophageal cancer | Both | < 6 (Mar 2024) | 0 (Mar 2024) | All provinces/ territories | ||||
WNT10 | Both | < 6 (Mar 2024) | 0 (Mar 2024) | All provinces/ territories | ||||
K1 | Both | < 6 (Mar 2024) | 0 (Mar 2024) | All provinces/ territories | ||||
K9 | Both | 12 (Mar 2024) | 0 (Mar 2024) | All provinces/ territories | ||||
International Pediatric Acute-Onset Neuro-psychiatric syndrome (PANS) Registry | University of Washington | Erin Masterson emaster@uw.edu and info@pansregistry.org | PANS, PANDAS | Both | 1,823 (2024) | NRc | NRc | |
International Paroxysmal Nocturnal Hemoglobinuria (PNH) Registryf | Alexion Pharmaceuticalsh | Dr. Jeff Szer jeff.szer@mh.org.au and Dr. Christopher Patriquin christopher.patriquin@uhn.ca | Paroxysmal nocturnal hemoglobinuria | Both | 4,000 (Mar 2024) | 205 (Mar 2024) | BC, AB, ON, QC, NS, NL | |
International Pyridoxine-dependent epilepsy (PDE) Registry | PDE Consortium | PDE@amsterdamumc.nl | Pyridoxine-dependent epilepsy | Both | 130 (2021) | NRc | BC | |
International Pompe Registry | Sanofi Genzyme | Contact-Us@sanofi.com | https://www.lumizyme.com/patients/resources/the_pompe_registry | Pompe disease | Both | 1,753 (Jul 2017) | NRc | BC, AB, MB, ON, QC, NB |
International Registry For Pediatric Systemic Vasculitis (Pedvas) Initiative | BC Children’s Hospital | Dr. David Cabral dcabral@cw.bc.ca and Dr. Kelly Brown kbrown@bcchr.ca | No website identified, information about registry on https://www.bcchr.ca/rheumatology/our-current-research | Granulomatosis with polyangiitis, microscopic polyangiitis, eosinophilic granulomatosis with polyangiitis, polyarteritis nodosa, Takayasu's arteritis, Deficiency of Adenosine Deaminase 2, undifferentiated vasculitis | NRc | NRc | NRc | NRc |
International Registry of Acute Aortic Dissection | University of Michigan | Elise Woznicki elisew@umich.edu and Kim Eagle keagle@umich.edu | Acute aortic dissection | Adult | 14,356 (Mar 2024) | 575 (Mar 2024) | AB, ON | |
International SCN8A Registry Research Study | Unclear | scn8a.info@gmail.com and Michael Hammer | SCN8A epilepsy | Pediatric | 381 (Dec 2021) | NRc | NRc | |
International Study Group of Pediatric Pancreatitis: In search for a cure: INSPPIRE | University of Iowa | Aliye Uc: 319-384-6032 aliye-uc@uiowa.edu | Pediatric pancreatitis | Pediatric | 867 (Nov 2022) | NRc | ON, QC | |
Immune thrombocytopenia (ITP) Natural History Study Registry | Platelet Disorder Support Association (PDSA); NORD | Jennifer DiRaimo jdiraimo@pdsa.org and Caroline Kruse ckruse@pdsa.org | Primary ITP | Both | 2,345 (Mar 2024) | 89 (Mar 2024) | All provinces/ territories | |
Secondary ITP | Both | 45 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | ||||
Inherited platelet disorders | Both | 7 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | ||||
Other auto-immune conditions co-existing with ITP | Both | 29 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | ||||
Other comorbid conditions co-existing with ITP | Both | 152 (Mar 2024) | 14 (Mar 2024) | All provinces/ territories | ||||
KIF1A Associated Neurologic Disorder (KAND) Natural History Study | Boston Children's Hospital | Wendy Chung wendy.chung@childrens.harvard.edu | KAND | Both | 150 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | |
Leber hereditary optic neuropathy (LHON) Data Collection Program | RARE-X, LHON, LHON Canada, LHON Society | support@rare-x.org, (716) 427-2739 | Leber hereditary optic neuropathy | Both | NRc | NRc | NRc | |
Life Raft Group Gastrointestinal stromal tumours Patient Registry | Life Raft Group | info@liferaftgroup.org | Gastrointestinal stromal tumours | Both | 2,441 (2021) | 63 (Unclear) | NRc | |
Mito-SHARE | United Mito-chondrial Disease Foundation | Philip Yeske philip.yeske@umdf.org and Nicole Wilson nicole@umdf.org | Mitochondrial disease | Both | 1,800 (Mar 2024) | 35 (Mar 2024) | BC, AB, SK, MB, ON, QC, NB | |
Moebius Syndrome Foundation Contact Registry | Moebius Syndrome Foundation Contact Registry | info@moebiussyndrome.org | Moebius syndrome | Both | NRc | NRc | NRc | |
Myotubular and Centronuclear Myopathies Patient Registry | John Walton Muscular Disease Research Centre, Newcastle University | Julie Bohill julie.bohill@ncl.ac.uk and Chiara Marini Betollo chiara.marini-betollo@ncl.ac.uk | Myotubular Myopathy | Both | 275 (Mar 2024) | 6 (Mar 2024) | All provinces/ territories | |
Centronuclear Myopathies | Both | 103 (Mar 2024) | < 6 (Mar 2024) | SK | ||||
The Nephrotic Syndrome Study Network: NEPTUNE | Rare Diseases Clinical Research Network Patient Contact Registry | NEPTUNE-STUDY@umich.edu; Heather Reich | Nephrotic syndrome, Alport syndrome | Both | 1,100 (2022) | NRc | ON | |
New-Onset Refractory Status Epilepticus Prospective Observational Study Registry | Norse Institute | Nicolas Gaspard nicolas.gaspard@erasme.ulb.ac.be and Lawrence Hirsch lawrence.hirsch@yale.edu | New-onset refractory status epilepticus, febrile infection-related epilepsy syndrome | Both | NRc | NRc | BC, MB, ON | |
NORSE/ FIRES Family Registry | NORSE Institute, Western University | Teneille Gofton teneille.gofton@lhsc.on.ca | NORSE (new-onset refractory status epilepticus), FIRES (febrile infection-related epilepsy syndrome) | Both | NRc | NRc | ON | |
North American Diamond Blackfan Anemia Registry (DBAR) | Cohen Children’s Medical Hospital in New York | Eva Atsidaftos eatsidaf@nshs.edu; DBARegistry@northwell.edu | https://dbafoundation.org/families-and-individuals/dba-registry/ | Diamond Blackfan anemia | Both | 900 (Apr 2023) | NRc | NRc |
North American Malignant Hyperthermia Registry | University of Florida | agunnett@anest.ufl.edu, 888-274-7899 | Malignant hyperthermia | Both | 725 (Mar 2018) | NRc | ON | |
North American Mitochondrial Disease Consortium | Columbia University | Dr. Michio Hirano mh29@cumc.columbia.edu | Mitochondrial myopathy | Both | 500 (Mar 2024) | 75 (Mar 2024) | ON | |
Primary Ciliary Dyskinesia (PCD) Foundation Registry | PCD Foundation | Carey Kauffman cakauffman@pcdfoundation.org and Michele Manion mmanion@pcdfoundation.org | Primary ciliary dyskinesia | Both | 492 (Mar 2024) | 114 (Mar 2024) | ON, QC | |
Pediatric Cardiomyopathy Registry | Children's Cardiomyopathy Foundation | info@childrenscardiomyopathy.org | https://www.childrenscardiomyopathy.org/pages/physician-resources/pediatric-cardiomyopathy-registry/ | Cardiomyopathy | Pediatric | 3,500 (Unclear) | 90 (2023) | AB |
Paroxysmal nocturnal hemoglobinuria (PNH) Registry | Unclear | medinfo@alexion.com | Paroxysmal nocturnal hemoglobinuria | Both | 5,700 (Oct 2022) | 107 (Jan 2018) | BC, AB, ON, QC, NS, NL | |
Primary Immune Deficiency Treatment Consortium | The Rare Diseases Clinical Research Network Patient Contact Registry | elizabeth.dunn@ucsf.edu | Primary immune deficiencies | Both | 900 (2018) | NRc | BC, AB, MB, ON, QC | |
Primary sclerosing cholangitis (PSC) Partners Patient Registry | PSC Partners Seeking Cure (US) | Rachel Gomel, registrycoordinator@pscpartners.org | https://pscpartners.org/about/participate/patient-registry.html | Primary sclerosing cholangitis | Both | 2,595 (Unclear) | NRc | BC, AB, SK, MB, ON, QC, NS |
Rare Brain Tumor Consortium Global Registry | Huang Lab, The Hospital for Sick Children | rbt.consortium@sickkids.ca and Mei Lu meilu@sickkids.ca | https://lab.research.sickkids.ca/annie-huang/rbtc/about-rbtc/ | Rare brain tumoursg | Pediatrich | 1,904 (2020) | NRc | BC, AB, SK, MB, ON, QC, NS |
RARE-X CHD2 - Data Collection Programd | RARE-X; The Coalition To Cure CHD2 | Zohreh Talebizadeh zohreh.talebizadeh@globalgenes.org | LHON (Leber hereditary optic neuropathy), WSS (Wiedemann–Steiner syndrome), CHD2, STXBP1, Koolen-de Vries Syndrome, FOXP1 (forkhead box protein P1), Usher Syndrome, CACNA1A (calcium voltage-gated channel subunit alpha1 A), Huntington's, Pompe | Both | 155 (Dec 2022) | 6 (Dec 2022) | NRc | |
Simons Searchlightd | Boston Children's Hospital; Geisinger | Dr. Wendy Chung coordinator@simonssearchlight.org and Dr. Cora Taylor coordinator@simonssearchlight.org | 16p11.2 deletion syndrome | Both | 275 (Mar 2024) | 16 (Mar 2024) | All provinces/ territories | |
16p11.2 duplication syndrome | Both | 199 (Mar 2024) | 8 (Mar 2024) | All provinces/ territories | ||||
SCN2A-Related Disorders | Both | 235 (Mar 2024) | 7 (Mar 2024) | All provinces/ territories | ||||
STXBP1 Encephalopathy | Both | 217 (Mar 2024) | 10 (Mar 2024) | All provinces/ territories | ||||
CTNNB1-Related Syndrome | Both | 205 (Mar 2024) | 11 (Mar 2024) | All provinces/ territories | ||||
PPP2R5D-Related Syndrome | Both | 185 (Mar 2024) | 10 (Mar 2024) | All provinces/ territories | ||||
SLC6A1-Related Syndrome | Both | 158 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | ||||
SYNGAP1-Related Syndrome | Both | 141 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | ||||
1q21.1 duplication syndrome | Both | 90 (Mar 2024) | < 6 (Mar 2024) | All provinces/ territories | ||||
GRIN2B-Related Syndrome | Both | 132 (Mar 2024) | 7 (Mar 2024) | All provinces/ territories | ||||
The Duchenne Registry | Parent Project Muscular Dystrophy | Ann Martin ann@parentprojectmd.org; coordinator@duchenneregistry.org | Duchenne Muscular Dystrophy | Both | 4,395 (Mar 2024) | 150 (Mar 2024) | BC, AB, SK, MB, ON, QC, NB, PE, NS, NL, YT | |
Becker Muscular Dystrophy | Both | 892 (Mar 2024) | 24 (Mar 2024) | BC, AB, ON, QC | ||||
The International Registry and Natural History Study for Adaptor-Protein 4- related Hereditary Spastic Paraplegia | Boston Children's Hospital, Cure AP-4 | AP4HSP.Research@childrens.harvard.edu | Adaptor-Protein 4-associated hereditary spastic paraplegia | Both | 400 (2023) | < 6 (Unclear) | QC | |
The International Replication Repair Deficiency Consortium (IRRDC) | The Hospital for Sick Children | Uri Tabori uri.tabori@sickkids.ca and replication.repair@sickkids.ca | Constitutional Mismatch Repair Deficiency Syndrome, Other replication repair deficiency syndromes | NRc | NRc | NRc | NRc | |
The International Schwannomatosis Database | Unclear | Dr. Allan Belzberg Abelzbe1@jhmi.edu | Schwannomatosis | NRc | 385 (2016) | NRc | BC | |
The North American Antiepileptic Drug Pregnancy Registry | Harvard Medical School | 1-888-233-2334 | Epilepsy | Both | 10,215 (2023) | 432 (2023) | BC, AB, SK, MB, ON, QC, NB, NS, NL | |
The Progeria Research Foundation International Registry | The Progeria Research Foundation | info@progeriaresearch.org | Progeria, other possible progeroid syndromes | Pediatric | 364 (Sep 2022) | NRc | SK, MB | |
Rare Diseases Clinical Research Network Patient Contact Registry | Rare Diseases Clinical Research Network | support@rdcrn.org | Several rare diseasesi | Adult | 8,861 (2012) | 443 (2012) | NRc | |
The Scleroderma Patient-centred Intervention Network (SPIN) Cohort | McGill University | Dr. Brett Thombs brett.thombs@mcgill.ca, spingeneral@gmail.com | Scleroderma | Adult | 1,800 (2021) | NRc | BC, AB, MB, ON, QC, NS | |
The US Immunodeficiency Network | USIDNET Consortium | contact@USIDNET.org | https://usidnet.org/about-the-registry/enrolling-institutions/ | Chronic granulomatous disease, X-linked agammaglobulinemia, common variable immune deficiency, X-linked hyper IgM, leukocyte adhesion deficiency, severe combined immune deficiency, DiGeorge syndrome, Wiskott-Aldrich syndrome | Both | 5,000 (2022) | NRc | QC |
TREAT-NMD global registry network | TREAT-NMD | registries@treat-nmd.com and John McKenna john.mckenna@treat-nmd.com | https://www.treat-nmd.org/what-we-do/global-registry-network/ | Neuromuscular diseases (e.g., spinal muscular atrophy) | Both | 88,832 (2024) | 5,600 (2023) | All provinces (BC, AB, SK, MB, ON, QC, NB, PE, NS, NL |
Tuberous Sclerosis Complex Natural History Database and Biorepository (TSC Alliance) | TSC Alliance | Elizabeth Cassidy ecassidy@tscalliance.org and Steve Roberds sroberds@tscalliance.org | https://www.tscalliance.org/researchers/natural-history-database/ | Tuberous Sclerosis Complex (TSC) | Both | 2,704 (Mar 2024) | 76 (Mar 2024) | AB, QC |
Lymphangioleio-myomatosis (LAM) | Both | 50 (Mar 2024) | < 6 (Mar 2024) | QC | ||||
Unique Families Global Network | Unique | info@rarechromo.org and Sarah Wynn sarah@rarechromo.org | Rare chromosome disorders | Both | 27,789 (2024) | 1,034 (2024) | NRc | |
Urea Cycle Disorders Consortium | The Rare Diseases Clinical Research Network Patient Contact Registry | jseminar@childrensnational.org | Urea cycle disordersj | Both | NRc | NRc | ON | |
Vasculitis Clinical Research Consortium | The Rare Diseases Clinical Research Network Patient Contact Registry | Unclear | Multiple types of vasculitisk | Both | 3,151 (Dec 2011) | NRc | BC, AB, ON, QC | |
VISION Registry | Melanoma Research Foundation | cureom@melanoma.org | Ocular melanoma | Both | 421 (2023) | 34 (2023) | BC, NL |
AB = Alberta; Apr = April; BC = British Colombia; Dec = December; Feb = February; Jan = January; Jul = July; Mar = March; MB = Manitoba; NB = New Brunswick; NL = Newfoundland and Labrador; Nov = November; NR = not reported or not available; NS = Nova Scotia; NT = Northwest Territories; NU = Nunavut; Oct = October; ON = Ontario; PE = Prince Edward Island; QC = Quebec; Sep = September; SK = Saskatchewan; YT = Yukon.
aWebsites sourced from publicly available information.
bAmong registries captured from the literature search, information is available overall, and not per disease.
cNot reported or available because of reliance on information available in a literature and/or public search or partial completion of registry holder survey. If the registry holder did not complete information, literature and/or public search information was inputted if available.
dDuring the survey with registry holders, registries with more than 10 rare diseases were instructed to enter data for the 10 most prevalent diseases at this stage.
eRegistry has a total of 6204 participants in our registry as have registrants who participate on two levels: contact or research registrants. Additionally, FTD disorders is a complex set of diseases, therefore, participants may display symptoms from multiple FTD disorders on the spectrum. It is possible a participant may not know their diagnosis when joining the registry. The registry is currently undergoing a platform upgrade and is implementing strategies to better understand diagnoses and disease progression of its participants.
fThis registry (funded by Alexion Pharmaceuticals) will soon be rolling into an academic-run broader registry under the auspices of the International PNH Interest Group (IPIG) which will permit all patients with PNH regardless of therapeutic (e.g., those not made by Alexion) to join to be broader and more representative of the current PNH treatment landscape.
gRare Brain Tumor Consortium Global collects data on rare brain tumours, including atypical teratoid rhabdoid tumours, embryonal tumours with multilayered rosettes, pineoblastomas, embryonal tumours with abundant neuropil and true rosettes, supratentorial primitive neuroectodermal tumours, central nervous system embryonal tumours, medulloepitheliomas, ependymoblastomas, and other rare embryonal tumours.
hThe Rare Brain Tumor Consortium Global Registry includes participants aged 0 to 21 years old.
iAcute intermittent porphyria, adrenoleukodystrophy and adrenomyeloneuropathy, Aicardi-Goutières syndrome, Alexander disease, ALG12-congenital disorder of glycosylation, ALG13-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation, ALG6-congenital disorder of glycosylation, ALG8-congenital disorder of glycosylation, Alpers syndrome, Alport syndrome, amyotrophic lateral sclerosis and related disorders, aminoglycoside-induced deafness, amyotrophic lateral sclerosis, amyotrophic lateral sclerosis-frontotemporal dementia, aortitis, arginase deficiency, argininosuccinate lyase deficiency, argininosuccinate synthetase deficiency, ATP6AP1-congenital disorder of glycosylation, ATP6AP2-congenital disorder of glycosylation, Barth syndrome, Behcet disease, biopterin synthesis or recycling defects, blepharospasm and Meige syndrome, brain vascular malformation, brittle bone disorders and osteogenesis imperfecta, carbamyl phosphate synthetase deficiency, cerebral cavernous malformations, cervical dystonia, Charcot-Marie-Tooth disease CMT1A, Charcot-Marie-Tooth disease CMT1B, Charcot-Marie-Tooth disease CMT2A, Charcot-Marie-Tooth disease CMT4, Charcot-Marie-Tooth disease CMTX, chronic granulomatous disease, chronic progressive external ophthalmoplegia, citrullinemia II, central nervous system vasculitis, complex I deficiency, complex II deficiency, complex III deficiency, complex IV deficiency, complex V deficiency, congenital disorders of glycosylation, congenital erythropoietic porphyria, congenital infections, coenzyme deficiency, cryoglobulinemic vasculitis, cutaneous vasculitis, cystic fibrosis, cytomegalovirus, developmental synaptopathies, diabetes and deafness, dihydropteridine reductase deficiency, DNAJC12 deficiency, DPAGT1-congenital disorder of glycosylation, drug-induced vasculitis, dystonia, EDEM3-congenital disorder of glycosylation, encephalomyopathy, encephalopathy, enterovirus, eosinophilic colitis, eosinophilic enteritis, eosinophilic esophagitis, eosinophilic gastritis, eosinophilic gastrointestinal disorders, eosinophilic granulomatosis with polyangiitis, erythropoietic protoporphyria, Fabry disease, familial bilateral striatal necrosis, focal and segmental glomerulosclerosis, frontotemporal dementia, FUT8-congenital disorder of glycosylation, GALNT2-congenital disorder of glycosylation, generalized dystonia, genetic mucociliary disorders, giant cell (temporal) arteritis, granulomatosis with polyangiitis, GTP cyclohydrolase 1 deficiency (recessive form), hepatocerebral disease, hepatoerythropoietic porphyria, hereditary coproporphyria, hereditary hemorrhagic telangiectasia, hereditary spastic paraplegia, herpes simplex virus, Hunter syndrome, Hurler-Scheie syndrome, Hurler syndrome, hyperphenylalaninemia, idiopathic aortitis, idiopathic bronchiectasis, IgA vasculitis, inherited neuropathies, Kearns-Sayre syndrome, Krabbe disease, laryngeal dystonia, Leber hereditary optic neuropathy, Leber hereditary optic neuropathy-plus, Leigh syndrome, leukodystrophies, leukoencephalopathy, limb dystonia, lysosomal disorders, MAN1B1-congenital disorder of glycosylation, MAN2B2-congenital disorder of glycosylation, Maroteaux-Lamy syndrome, maternally inherited Leigh syndrome, membranous nephropathy, metachromatic leukodystrophy, microscopic polyangiitis, minimal change disease, mitochondrial disease, mitochondrial DNA depletion syndrome, mitochondrial encephalomyopathy lactic acidosis with stroke-like episodes, mitochondrial neurogastrointestinal encephalomyopathy, Morquio syndrome, MPI-congenital disorder of glycosylation, mucopolysaccharidoses, multifocal dystonia, multiple deletions of mitochondrial DNA, multiple respiratory chain enzyme deficiencies, multisystem proteinopathy, myasthenia gravis, myoclonus epilepsy ragged-red fibres, N-acetylglutamate synthase deficiency, nephrotic syndrome, neuropathy, ataxia, and retinitis pigmentosa syndrome, NGLY1 deficiency, nontuberculous mycobacterium pulmonary disease, ocular myasthenia, ornithine transcarbamylase deficiency, ornithine translocase deficiency, other known Charcot-Marie-Tooth peripheral neuropathy, other unknown Charcot-Marie-Tooth peripheral neuropathy, Pearson syndrome, Pelizaeus-Merzbacher disease, peripheral neuropathy, PGAP3-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation, Phelan-McDermid syndrome, phenylalanine hydroxylase deficiency, phenylketonuria, PIGA-congenital disorder of glycosylation, PIGN-congenital disorder of glycosylation, PIGT-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation, polyarteritis nodosa, Pompe disease, porphyria cutanea tarda, porphyrias, primary ciliary dyskinesia, primary immune deficiency disorders, primary immune regulatory disorders, primary lateral sclerosis, progressive muscular atrophy, pseudohypoaldosteronism, PTEN hamartoma tumour syndrome, pterin-4a-carbinolamine dehydratase deficiency, pyruvate dehydrogenase complex deficiencies, Sanfilippo syndrome A, Sanfilippo syndrome B, Sanfilippo syndrome C, Sanfilippo syndrome D, Scheie syndrome, segmental dystonia, sensory ataxia neuropathy dysarthria and ophthalmoplegia, severe combined immunodeficiency, SLC35A2-congenital disorder of glycosylation, SLC35C1-congenital disorder of glycosylation, SLC39A8-congenital disorder of glycosylation, Sly syndrome, SRD5A3-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation, STT3A-congenital disorder of glycosylation, Sturge-Weber syndrome, Takayasu arteritis, tuberous sclerosis complex, urea cycle disorders, urticarial vasculitis, variegate porphyria, vasculitis disorders, VMA21-congenital disorder of glycosylation, Wiskott-Aldrich syndrome, and X-linked protoporphyria.
jN-acetylglutamate synthase (NAGS) deficiency, carbamoyl-phosphate synthase 1 deficiency, ornithine transcarbamylase deficiency, argininosuccinate synthase deficiency (also known as citrullinemia type I), citrin deficiency (also called citrullinemia type II), argininosuccinate lyase deficiency (also known as argininosuccinic aciduria), arginase deficiency (also known as hyperargininemia), and ornithine translocase deficiency (also known as hyperornithinemia-hyperammonemia-homocitrullinuria or HHH syndrome).
kAortitis, Behcet disease, central nervous system vasculitis, cryoglobulinemic vasculitis, cutaneous vasculitis, drug-induced vasculitis, eosinophilic granulomatosis with polyangiitis (Churg-Strauss), giant cell (temporal) arteritis, granulomatosis with polyangiitis (Wegener), idiopathic aortitis, IgA vasculitis (Henoch-Schonlein purpura), microscopic polyangiitis, polyarteritis nodosa, Takayasu arteritis, urticarial vasculitis, and other types of vasculitis.
ISSN: 2563-6596
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