Evaluation of A Clinical Diagnostic Test for CRDS (NCT06188689) | Clinical Trial Compass
RecruitingNot Applicable
Evaluation of A Clinical Diagnostic Test for CRDS
United States, Belgium, Canada400 participantsStarted 2023-02-02
Plain-language 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.
Who can participate
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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 contro…
Questions worth asking your doctor
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1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
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Questions for the trial coordinator
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1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.