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New treatment option for Calcium Release Deficiency Syndrome (CRDS)
Official title Evaluation of A Clinical Diagnostic Test for CRDS
ClinicalTrials.gov ID: NCT06188689
What this study is testing
- What it's testing
- 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.
A plain-language read of the study's public ClinicalTrials.gov listing. The study team confirms the details.
Who can take part
Adults
You may be able to join if
- Cohort 1: Calcium Release Deficiency Syndrome (CRDS) Cases
- Presence of an RyR2 variant confirmed to be loss-of-function on in vitro testing
You likely can't join if
- 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...
- 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...
- Cardiac arrest requiring cardioversion or defibrillation that remains unexplained following an ECG, echocardiogram, coronary assessment, cardiac MRI...
See the full eligibility criteria
- Cohort 1: Calcium Release Deficiency Syndrome (CRDS) Cases
- Presence of an RyR2 variant confirmed to be loss-of-function on in vitro testing
- 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...
- 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
The study team makes the final eligibility decision.
Where it's taking place
- San Francisco, California, United States
- Rochester, Minnesota, United States
- Seattle, Washington, United States
- Edegem, Antwerp, Belgium
- Brussels, Belgium
- Calgary, Alberta, Canada
- Edmonton, Alberta, Canada
- Vancouver, British Columbia, Canada
- Hamilton, Ontario, Canada
- London, Ontario, Canada
- Ottawa, Ontario, Canada
- Toronto, Ontario, Canada
- Montreal, Quebec, Canada
- Québec, Quebec, Canada
- Aarhus, Denmark
- Bordeaux, New Aquitaine, France
- Jerusalem, Israel
- Oxford, Oxfordshire, United Kingdom
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, not specified. The study team makes the final eligibility decision.
Where is this trial taking place?
Study sites include San Francisco, California, United States; Rochester, Minnesota, United States; Seattle, Washington, United States; Edegem, Antwerp, Belgium; Brussels, Belgium; Calgary, Alberta, Canada and 12 more location(s). Enter your location above to see the nearest site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from ClinicalTrials.gov; the study team decides eligibility.