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First received: December 18, 2023

Clinical Trial: Evaluation of A Clinical Diagnostic Test for CRDS

Study Status: Completed

Recruit Status: RECRUITING

Condition: Calcium Release Deficiency Syndrome (CRDS)

Study Type: INTERVENTIONAL


Official Title: Evaluation of a Clinical Diagnostic Test for Calcium Release Deficiency Syndrome: The DIAGNOSE CRDS Study

Brief Summary: 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.

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