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Status:

RECRUITING

International CRDS Registry

Lead Sponsor:

Population Health Research Institute

Collaborating Sponsors:

Canadian Institutes of Health Research (CIHR)

Conditions:

Calcium Release Deficiency Syndrome

Eligibility:

All Genders

Brief Summary

Calcium Release Deficiency Syndrome (CRDS) is a newly discovered genetic arrhythmia syndrome that confers a risk of life-threatening arrhythmias secondary to RYR2 loss-of-function. The International C...

Detailed Description

Calcium Release Deficiency Syndrome (CRDS) is a recently discovered inherited arrhythmia syndrome that predisposes to malignant ventricular arrhythmias and sudden cardiac death (SCD). The underlying g...

Eligibility Criteria

Inclusion

  • 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)

Exclusion

    Key Trial Info

    Start Date :

    November 21 2024

    Trial Type :

    OBSERVATIONAL

    Allocation :

    ESTIMATED

    End Date :

    December 31 2050

    Estimated Enrollment :

    500 Patients enrolled

    Trial Details

    Trial ID

    NCT06508164

    Start Date

    November 21 2024

    End Date

    December 31 2050

    Last Update

    December 11 2025

    Active Locations (15)

    Enter a location and click search to find clinical trials sorted by distance.

    Page 1 of 4 (15 locations)

    1

    University of California

    San Francisco, California, United States, 94143

    2

    Mayo Clinic

    Rochester, Minnesota, United States, 55905

    3

    Duke University

    Durham, North Carolina, United States, 27710

    4

    Garvan Institute of Medical Research

    Darlinghurst, New South Wales, Australia, 2010