Evaluating a diagnostic test for Calcium Release Deficiency Syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to evaluate a clinical diagnostic test for Calcium Release Deficiency Syndrome (CRDS), a newly identified inherited arrhythmia syndrome linked to RyR2 loss-of-function variants. The researchers hypothesize that CRDS can be diagnosed through the assessment of the heart's repolarization response to brief tachycardia induced by cardiac pacing. This approach seeks to provide a more accessible and timely diagnosis compared to the current in vitro testing methods, which are complex and not widely available. The study will involve multiple cohorts, including confirmed CRDS cases, patients with catecholaminergic polymorphic ventricular tachycardia (CPVT), and survivors of unexplained cardiac arrest.

Why it matters

Who can join: the full rules

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

Where it's running

• University of California
  San Francisco, California, United States Recruiting
• Boston Children's Hospital
  Boston, Massachusetts, United States Recruiting
• Mayo Clinic
  Rochester, Minnesota, United States Recruiting
• University of Washington
  Seattle, Washington, United States Recruiting
• Antwerp University Hospital
  Edegem, Antwerp, Belgium Recruiting
• Universitair Ziekenhuis Brussel
  Brussels, Belgium Recruiting

Study contacts

• Principal investigator: Jason D Roberts, MD MAS — McMaster University
• Study coordinator: Jason Roberts, MD MAS
• Email: jason.roberts@phri.ca
• Phone: 905-297-3479

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.