NCT06188689 Evaluation of A Clinical Diagnostic Test for CRDS
| NCT ID | NCT06188689 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Population Health Research Institute |
| Condition | Calcium Release Deficiency Syndrome (CRDS) |
| Study Type | INTERVENTIONAL |
| Enrollment | 400 participants |
| Start Date | 2023-02-02 |
| Primary Completion | 2027-12 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
This trial targets 400 participants in total. It began in 2023-02-02 with a primary completion date of 2027-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
Eligibility Criteria
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 Exclusion criteria: • Unable to provide informed consent Cohort 2: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Cases Inclusion criteria: * 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 Exclusion criteria: * Unable to provide informed consent * Use of a QT prolonging medication, aside from flecainide, at the time of the burst pacing maneuvers Cohort 3: Survivors of Unexplained Cardiac Arrest (UCA) Inclusion criteria: * Cardiac arrest requiring cardioversion or defibrillation that remains unexplained following an ECG, echocardiogram, coronary assessment, cardiac MRI, and exercise treadmill test * Undergone genetic testing that includes screening of RyR2\* Exclusion criteria: * Unable to provide informed consent * Use of a QT prolonging medication at the time of the burst pacing maneuvers * 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). Cohort 4: SVT controls Inclusion criteria: • Undergoing an invasive electrophysiology study Exclusion criteria: * Ventricular cardiomyopathy * Ventricular pre-excitation * Long QT syndrome * Use of a QT prolonging medication at the time of the EP study * Use of a Class I or Class III anti-arrhythmic drug at the time of the EP study * Known obstructive coronary artery disease (existing coronary stenosis \>50%) * Unable to provide informed consent
Contact & Investigator
Ziv Dadon, MD
STUDY DIRECTOR
Shaare Zedek Medical Center
Frequently Asked Questions
Who can join the NCT06188689 clinical trial?
This trial is open to participants of all sexes, studying Calcium Release Deficiency Syndrome (CRDS). Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06188689 currently recruiting?
Yes, NCT06188689 is actively recruiting participants. Contact the research team at jason.roberts@phri.ca for enrollment information.
Where is the NCT06188689 trial being conducted?
This trial is being conducted at San Francisco, United States, Boston, United States, Rochester, United States, Seattle, United States and 11 additional locations.
Who is sponsoring the NCT06188689 clinical trial?
NCT06188689 is sponsored by Population Health Research Institute. The principal investigator is Ziv Dadon, MD at Shaare Zedek Medical Center. The trial plans to enroll 400 participants.