International CRDS Registry

Conditions

• Calcium Release Deficiency Syndrome

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

Start date

Nov 21, 2024

Status verified

May 2026

Primary completion

Dec 31, 2050

Completion

Dec 31, 2050

Study Design

Enrollment

500 participants (estimated)

Arms

• Arm: CRDS
  Possesses a rare RYR2 variant characterized to be loss-of-function based on in vitro testing consistent with a CRDS diagnosis
• Arm: 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.
• Arm: 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

Primary Outcome Measure

Malignant Ventricular Arrhythmia [ Time Frame: 5 years ]

Central Contacts

• Jason D Roberts, MD MAS
  905-297-3479
  [email protected]

Locations (4)

Find similar trials in San Francisco, CA