Registry for Calcium Release Deficiency Syndrome
International Calcium Release Deficiency Syndrome Registry
This study is trying to gather information about Calcium Release Deficiency Syndrome to better understand it and find the best ways to treat people with this heart condition caused by RYR2 gene changes.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Sex | All |
| Sponsor | Population Health Research Institute Academic / other |
| Locations | 16 sites (San Francisco, California and 15 other locations) |
| Trial ID | NCT06508164 on ClinicalTrials.gov |
What this trial studies
The International CRDS Registry aims to gather extensive data on Calcium Release Deficiency Syndrome (CRDS), a genetic arrhythmia syndrome linked to life-threatening heart rhythm issues due to RYR2 gene mutations. This observational registry will evaluate the phenotypic spectrum of CRDS, assess risk stratification methods, and explore optimal treatment strategies. Patients with confirmed loss-of-function RYR2 variants will be enrolled, while those with non-functional variants will be placed in a control group. The goal is to enhance understanding and management of CRDS for affected individuals and their families.
Who should consider this trial
Good fit: Ideal candidates include individuals with confirmed loss-of-function RYR2 variants or truncating variants associated with Calcium Release Deficiency Syndrome.
Not a fit: Patients whose RYR2 variants do not impact function may not benefit from this registry.
Why it matters
Potential benefit: If successful, this registry could lead to improved management and treatment strategies for patients with Calcium Release Deficiency Syndrome.
How similar studies have performed: While CRDS is a newly identified condition, similar registries for genetic arrhythmias have shown promise in advancing understanding and treatment.
Eligibility criteria
Show full inclusion / exclusion criteria
CRDS Cohort Inclusion Criterion: \- Presence of a rare\* RYR2 variant that is characterized to be loss-of-function based on in vitro testing# RYR2 Truncating and Large CNV Cohort Inclusion Criterion: \- Presence of a rare\* RYR2 truncating variant and/or large copy number variant involving the RYR2 gene. Carriers of a Non-Functional RYR2 variant Inclusion Criterion: \- Presence of a rare\* RYR2 variant that is characterized to be neither loss- nor gain-of-function based on in vitro testing# \*rare defined as gnomAD prevalence \< 0.1% #RYR2 in vitro functional testing will be performed in the laboratory of Dr. Wayne Chen (University of Calgary)
Where this trial is running
San Francisco, California and 15 other locations
- University of California — San Francisco, California, United States (Recruiting)
- Mayo Clinic — Rochester, Minnesota, United States (Recruiting)
- Duke University — Durham, North Carolina, United States (Recruiting)
- Garvan Institute of Medical Research — Darlinghurst, New South Wales, Australia (Recruiting)
- Antwerp University Hospital — Edegem, Antwerp, Belgium (Recruiting)
- Universitair Ziekenhuis Brussel — Brussels, Belgium (Recruiting)
- University of Calgary — Calgary, Alberta, Canada (Recruiting)
- Children's & Women's Health Centre of British Columbia — Vancouver, British Columbia, Canada (Recruiting)
- Hamilton General Hospital — Hamilton, Ontario, Canada (Recruiting)
- London Health Sciences Centre - University Hospital — London, Ontario, Canada (Recruiting)
- Montréal Heart Institute — Montreal, Quebec, Canada (Recruiting)
- Institut Universitaire de Cardiologie et de Pneumologie de Québec-Université Laval — Québec, Quebec, Canada (Recruiting)
- Aarhus University Hospital — Aarhus, Denmark (Recruiting)
- CHU de Bordeaux — Bordeaux, New Aquitaine, France (Recruiting)
- Shaare Zedek Medical Center — Jerusalem, Israel (Recruiting)
- City St George's, University of London — London, United Kingdom (Recruiting)
Study contacts
- Principal investigator: Jason D Roberts, MD MAS — McMaster University
- Study coordinator: Jason D Roberts, MD MAS
- Email: crds@phri.ca
- Phone: 905-297-3479
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.