[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"calcium-release-deficiency-syndrome-crds\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:calcium-release-deficiency-syndrome-crds":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":27,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":41},"100530585","evaluation-of-a-clinical-diagnostic-test-for-crds-100530585",false,"NCT06188689","Evaluation of A Clinical Diagnostic Test for CRDS","Evaluation of a Clinical Diagnostic Test for Calcium Release Deficiency Syndrome: The DIAGNOSE CRDS Study","DIAGNOSE CRDS","Cohort 1: Calcium Release Deficiency Syndrome (CRDS) Cases\n\nInclusion criteria:\n\n• Presence of an RyR2 variant confirmed to be loss-of-function on in vitro testing\n\nExclusion criteria:\n\n• Unable to provide informed consent\n\nCohort 2: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Cases\n\nInclusion criteria:\n\n* Satisfy a clinical phenotype consistent with the Expert Consensus Statement\n* Presence of a confirmed or presumed pathogenic gain-of-function RyR2 variant OR homozygous or compound heterozygous for likely pathogenic\u002Fpathogenic CASQ2 variants\n\nExclusion criteria:\n\n* Unable to provide informed consent\n* Use of a QT prolonging medication, aside from flecainide, at the time of the burst pacing maneuvers\n\nCohort 3: Survivors of Unexplained Cardiac Arrest (UCA)\n\nInclusion criteria:\n\n* Cardiac arrest requiring cardioversion or defibrillation that remains unexplained following an ECG, echocardiogram, coronary assessment, cardiac MRI, and exercise treadmill test\n* Undergone genetic testing that includes screening of RyR2\\*\n\nExclusion criteria:\n\n* Unable to provide informed consent\n* Use of a QT prolonging medication at the time of the burst pacing maneuvers\n\n  * Among survivors of UCA that possess a rare RyR2 variant in the absence of a CPVT phenotype, in vitro functional testing will be performed in order to confirm it is not loss- or gain-of-function (and will be arranged through the laboratory of Dr. Wayne Chen at the University of Calgary).\n\nCohort 4: SVT controls\n\nInclusion criteria:\n\n• Undergoing an invasive electrophysiology study\n\nExclusion criteria:\n\n* Ventricular cardiomyopathy\n* Ventricular pre-excitation\n* Long QT syndrome\n* Use of a QT prolonging medication at the time of the EP study\n* Use of a Class I or Class III anti-arrhythmic drug at the time of the EP study\n* Known obstructive coronary artery disease (existing coronary stenosis \\>50%)\n* Unable to provide informed consent","ALL",{"count":19,"type":20},400,"ESTIMATED","INTERVENTIONAL",[23],"NA","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.",[26],"Calcium Release Deficiency Syndrome (CRDS)",[28],"cardiac arrhythmia, sudden cardiac death, cardiac ryanodine receptor, unexplained cardiac arrest","RECRUITING","2026-05-28",{"date":32,"type":33},"2026-06-01","ACTUAL",{"date":35,"type":33},"2023-02-02",{"date":37,"type":20},"2028-03",{"name":39,"class":40},"Population Health Research Institute","OTHER",19]