| NCT ID | NCT06508164 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Population Health Research Institute |
| Condition | Calcium Release Deficiency Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 500 participants |
| Start Date | 2024-11-21 |
| Primary Completion | 2050-12-31 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 500 participants in total. It began in 2024-11-21 with a primary completion date of 2050-12-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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 CRDS registry has been designed to facilitate large-scale evaluation of CRDS, including its phenotypic spectrum, approaches to risk stratification, and optimal treatment strategies.
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)
Contact & Investigator
Thomas M Roston, MD, PhD
STUDY CHAIR
University of British Columbia
Frequently Asked Questions
Who can join the NCT06508164 clinical trial?
This trial is open to participants of all sexes, studying Calcium Release Deficiency Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06508164 currently recruiting?
Yes, NCT06508164 is actively recruiting participants. Contact the research team at crds@phri.ca for enrollment information.
Where is the NCT06508164 trial being conducted?
This trial is being conducted at San Francisco, United States, Rochester, United States, Durham, United States, Fairfax, United States and 11 additional locations.
Who is sponsoring the NCT06508164 clinical trial?
NCT06508164 is sponsored by Population Health Research Institute. The principal investigator is Thomas M Roston, MD, PhD at University of British Columbia. The trial plans to enroll 500 participants.