Evaluation of A Clinical Diagnostic Test for CRDS

ConditionCalcium Release Deficiency Syndrome (CRDS)

Trial statusRecruiting

Trial phaseNot applicable

Trial typeInterventional

Biological sexAll

AgeNot listed

SponsorPopulation Health Research Institute

About this trial

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 criteria

Qualifiers

None

Disqualifiers

Satisfy a clinical phenotype consistent with the Expert Consensus Statement

Presence of a confirmed or presumed pathogenic gain-of-function RyR2 variant OR homozygous or compound heterozygous for likely pathogenic/pathogenic CASQ2 variants

Unable to provide informed consent

Use of a QT prolonging medication, aside from flecainide, at the time of the burst pacing maneuvers