ClinicaliQ Trial Snapshot
- Evaluation of A Clinical Diagnostic Test for CRDS — Recruiting • Non-phase study • Cardiology / Cardiovascular • NCT06188689.
- Test being evaluated: A novel clinical diagnostic test for Calcium Release Deficiency Syndrome (CRDS) caused by RyR2 loss-of-function mutations, designed to replace current cellular-based in vitro confirmation methods with a more accessible diagnostic approach.
- Patient eligibility overview: Individuals with suspected CRDS characterised by RyR2 variants associated with loss-of-function and inherited arrhythmia risk, including those with family histories of sudden cardiac death or documented arrhythmias consistent with this syndrome.
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- Quick orientation before opening the registry record.
- Checking recruitment status, phase and sponsor at a glance.
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What This Trial Is Studying
Calcium Release Deficiency Syndrome (CRDS) is a novel inherited arrhythmia syndrome secondary to RyR2 loss-of-function that confers a risk of sudden cardiac death. Diagnosis of CRDS presently requires cellular-based in vitro confirmation that an RyR2 variant causes loss-of-function. We hypothesize that CRDS can be diagnosed clinically through evaluation of the repolarization response to brief tachycardia, mediated by cardiac pacing, and a subsequent pause.
Eligibility Snapshot
- Cohort 1: Calcium Release Deficiency Syndrome (CRDS) Cases Inclusion criteria: • Presence of an RyR2 variant confirmed to be loss-of-function on in vitro testing
Use the source registry for the full inclusion and exclusion criteria before discussing referral or enrolment.