International CRDS Registry
Launched by POPULATION HEALTH RESEARCH INSTITUTE · Jul 12, 2024
Trial Information
Current as of September 06, 2025
Recruiting
Keywords
ClinConnect Summary
The International CRDS Registry is a clinical trial focused on understanding Calcium Release Deficiency Syndrome (CRDS), a recently identified genetic condition that can cause dangerous heart rhythm problems. This study aims to gather information on how CRDS affects individuals, how to assess their risk of heart issues, and the best treatment options available. By collecting data from participants, researchers hope to improve care for those with this condition.
To be eligible for the trial, participants must have a specific rare genetic change in the RYR2 gene that affects how it works. This includes individuals with certain types of RYR2 changes that have been confirmed through lab testing. The trial is open to people of all ages and genders. If you join, you can expect to provide information about your health and undergo testing to help researchers learn more about CRDS. By participating, you’ll be contributing to important research that could lead to better understanding and management of this condition.
Gender
ALL
Eligibility 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)
About Population Health Research Institute
The Population Health Research Institute (PHRI) is a leading clinical research organization dedicated to advancing the understanding of population health through innovative research methodologies. With a focus on large-scale, multi-center clinical trials and epidemiological studies, PHRI aims to address pressing health challenges by investigating the interplay between lifestyle, genetic, and environmental factors. By fostering collaboration among researchers, healthcare providers, and communities, PHRI strives to generate evidence-based insights that inform public health policies and improve health outcomes on a global scale. Their commitment to excellence in research is underscored by a robust infrastructure and a multidisciplinary team of experts dedicated to translating research findings into actionable solutions for diverse populations.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Rochester, Minnesota, United States
Seattle, Washington, United States
San Francisco, California, United States
Ottawa, Ontario, Canada
Hamilton, Ontario, Canada
Toronto, Ontario, Canada
Boston, Massachusetts, United States
London, Ontario, Canada
Brussels, , Belgium
Aarhus, , Denmark
Jerusalem, , Israel
Darlinghurst, New South Wales, Australia
London, Ontario, Canada
Montréal, Quebec, Canada
Edegem, Antwerp, Belgium
Jerusalem, , Israel
Vancouver, British Columbia, Canada
Vancouver, British Columbia, Canada
Amsterdam, , Netherlands
Montréal, Quebec, Canada
Pessac, , France
Edegem, Antwerp, Belgium
Brussels, , Belgium
Québec City, Quebec, Canada
Oxford, Oxfordshire, United Kingdom
Patients applied
Trial Officials
Thomas M Roston, MD, PhD
Study Chair
University of British Columbia
Jason D Roberts, MD MAS
Principal Investigator
McMaster University
SR Wayne Chen, PhD
Principal Investigator
University of Calgary
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported