Registry for Calcium Release Deficiency Syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• University of California
  San Francisco, California, United States Recruiting
• Mayo Clinic
  Rochester, Minnesota, United States Recruiting
• Duke University
  Durham, North Carolina, United States Recruiting
• Inova Health Care Services
  Fairfax, Virginia, United States Recruiting
• Garvan Institute of Medical Research
  Darlinghurst, New South Wales, Australia Recruiting
• Antwerp University Hospital
  Edegem, Antwerp, Belgium 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.