Evaluation of a Clinical Diagnostic Test for CRDS

Description

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.

Conditions

Calcium Release Deficiency Syndrome (CRDS)

Study Overview

Study Details

Study overview

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.

Evaluation of a Clinical Diagnostic Test for Calcium Release Deficiency Syndrome: the DIAGNOSE CRDS Study

Evaluation of a Clinical Diagnostic Test for CRDS

Condition
Calcium Release Deficiency Syndrome (CRDS)
Intervention / Treatment

-

Contacts and Locations

Seattle

University of Washington, Seattle, Washington, United States, 98195

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

    Ages Eligible for Study

    to

    Sexes Eligible for Study

    ALL

    Accepts Healthy Volunteers

    No

    Collaborators and Investigators

    Population Health Research Institute,

    Ziv Dadon, MD, STUDY_DIRECTOR, Shaare Zedek Medical Center

    Jason D Roberts, MD MAS, PRINCIPAL_INVESTIGATOR, McMaster University

    Wayne Chen, PhD, PRINCIPAL_INVESTIGATOR, University of Calgary

    Study Record Dates

    2026-03