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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT06508164




Registration number
NCT06508164
Ethics application status
Date submitted
8/07/2024
Date registered
18/07/2024
Date last updated
26/08/2025

Titles & IDs
Public title
International CRDS Registry
Scientific title
International Calcium Release Deficiency Syndrome Registry
Secondary ID [1] 0 0
16861
Universal Trial Number (UTN)
Trial acronym
CRDS Registry
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Calcium Release Deficiency Syndrome 0 0
Condition category
Condition code

Intervention/exposure
Study type
Observational [Patient Registry]
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
CRDS - Possesses a rare RYR2 variant characterized to be loss-of-function based on in vitro testing consistent with a CRDS diagnosis

Carrier of an RYR2 truncating variant or large copy number variant - Possesses a rare RYR2 truncating variant and/or large copy number variant involving the RYR2 gene.

Carrier of a non-functional RYR2 rare variant - Possesses a rare RYR2 variant that is NOT loss-of-function based on in vitro testing and has a clinical phenotype that was considered compatible with CRDS
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Malignant Ventricular Arrhythmia
Timepoint [1] 0 0
5 years

Eligibility
Key inclusion 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)
Minimum age
No limit
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
21/11/2024
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
31/12/2050
Actual
Sample size
Target
500
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
NSW
Recruitment hospital [1] 0 0
Garvan Institute of Medical Research - Darlinghurst
Recruitment postcode(s) [1] 0 0
2010 - Darlinghurst
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
California
Country [2] 0 0
Belgium
State/province [2] 0 0
Antwerp
Country [3] 0 0
Belgium
State/province [3] 0 0
Brussels
Country [4] 0 0
Canada
State/province [4] 0 0
British Columbia
Country [5] 0 0
Canada
State/province [5] 0 0
Ontario
Country [6] 0 0
Canada
State/province [6] 0 0
Quebec
Country [7] 0 0
Denmark
State/province [7] 0 0
Aarhus
Country [8] 0 0
Israel
State/province [8] 0 0
Jerusalem

Funding & Sponsors
Primary sponsor type
Other
Name
Population Health Research Institute
Address
Country
Other collaborator category [1] 0 0
Government body
Name [1] 0 0
Canadian Institutes of Health Research (CIHR)
Address [1] 0 0
Country [1] 0 0

Ethics approval
Ethics application status

Summary
Brief summary
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Thomas M Roston, MD, PhD
Address 0 0
University of British Columbia
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Jason D Roberts, MD MAS
Address 0 0
Country 0 0
Phone 0 0
905-297-3479
Fax 0 0
Email 0 0
[email protected]
Contact person for scientific queries

Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
No
No/undecided IPD sharing reason/comment


What supporting documents are/will be available?

No Supporting Document Provided


Results publications and other study-related documents

No documents have been uploaded by study researchers.

Results not provided in https://clinicaltrials.gov/study/NCT06508164