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Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Clinical Trials

Also called CPVT, polymorphic ventricular tachycardia, RYR2 mutation

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited cardiac arrhythmia syndrome characterized by exercise- or catecholamine (epinephrine/adrenaline)-induced bidirectional or polymorphic ventricular tachycardia with high risk of sudden cardiac death. Autosomal dominant CPVT (most common, ~70% of cases) results from mutations in the RYR2 gene encoding cardiac ryanodine receptor (calcium release channel in sarcoplasmic reticulum), while autosomal recessive forms result from CASQ2 mutations encoding calsequestrin-2 (calcium-binding protein).

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About Catecholaminergic Polymorphic Ventricular Tachycardia

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited cardiac arrhythmia syndrome characterized by exercise- or catecholamine (epinephrine/adrenaline)-induced bidirectional or polymorphic ventricular tachycardia with high risk of sudden cardiac death. Autosomal dominant CPVT (most common, ~70% of cases) results from mutations in the RYR2 gene encoding cardiac ryanodine receptor (calcium release channel in sarcoplasmic reticulum), while autosomal recessive forms result from CASQ2 mutations encoding calsequestrin-2 (calcium-binding protein).

These mutations impair intracellular calcium handling and cycling, causing abnormal calcium dynamics within myocytes that trigger ectopic activity. Crucially, affected patients have structurally normal hearts and normal baseline ECGs at rest, distinguishing CPVT from other inherited arrhythmia syndromes.

Stress, exercise, or strong emotional stimuli trigger bidirectional ventricular tachycardia (alternating axis on ECG) or polymorphic ventricular tachycardia that can rapidly degenerate to ventricular fibrillation and sudden death. Symptoms typically begin in childhood or adolescence with unexplained syncope during exercise or emotional stress, though some patients remain asymptomatic until provoked.

Common Symptoms of Catecholaminergic Polymorphic Ventricular Tachycardia

Recognizing the signs of Catecholaminergic Polymorphic Ventricular Tachycardia early can lead to faster diagnosis and better outcomes. Symptoms may vary in severity from person to person. If you or a loved one are experiencing any of the following, consider speaking with a specialist.

  • Syncope triggered by stress, emotion, or exercise
  • Polymorphic or bidirectional ventricular tachycardia
  • Sudden cardiac death risk, especially in children
  • Palpitations and light-headedness
  • Normal baseline ECG
  • Exercise-induced symptoms

Who Catecholaminergic Polymorphic Ventricular Tachycardia Affects

Catecholaminergic polymorphic ventricular tachycardia often manifests in childhood to young adulthood with stress or emotion-triggered syncope, though some patients remain asymptomatic until later years or until cardiac events occur.

The condition affects males and females. Autosomal dominant inheritance (RYR2 mutations) accounts for approximately 70% of cases, with ~50% of offspring of affected parents inheriting mutations. Autosomal recessive forms (CASQ2 mutations) are found primarily in certain populations including Middle Eastern and Mediterranean ancestry groups. De novo mutations account for minority of cases.

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Active Clinical Trials for Catecholaminergic Polymorphic Ventricular Tachycardia

Use this Catecholaminergic Polymorphic Ventricular Tachycardia clinical trial finder to see the 7 studies recruiting patients in the United States and worldwide, with eligibility criteria in plain English. These studies play a critical role in advancing care for cardiovascular conditions and may offer access to treatments not yet widely available. Each trial below is sourced directly from ClinicalTrials.gov, with eligibility criteria translated into plain English to help patients and caregivers evaluate whether a study may be a fit.

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Note: Trial recruitment statuses on ClinicalTrials.gov may not immediately reflect recent FDA decisions, sponsor announcements, or enrollment changes. Always confirm a trial's current status directly with the study coordinator before making plans.

7 active trials worldwide
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RECRUITINGPHASE1Recently updatedNCT07148089

A Study of SGT-501 Gene Therapy in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Intervention: SGT-501

Sponsor: Solid Biosciences Inc.

This is a Phase 1b, Multicenter, Open-Label, Dose Finding Study to Investigate the Safety and Tolerability of a Single Intravenous Dose of SGT-501 in participants with catecholaminergic polymorphic ventricular tachycardia (CPVT). The first-in-human (FIH) safety study will focus o...

Ages 7 Years+5 locations
Started Feb 2026Updated 1 week agoEst. Jun 2027 (~9 months)
RECRUITINGPHASE2Recently updatedNCT06658899

A Phase 2 Study of CRD-4730 in CPVT

Intervention: CRD-4730, Placebo

Sponsor: Cardurion Pharmaceuticals, Inc.

This is a Phase 2, multicenter, double-blind, sponsor blinded, placebo-controlled, repeat-dose clinical study of CRD-4730 to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of CRD-4730 to participants with Catecholaminergic Polymorphic Ventricu...

Ages 18 Years – 99 Years12 locations
Started Dec 2025Updated 2 months agoEst. Apr 2027 (~6 months)
RECRUITINGUpdated a few months agoNCT06546137

National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry

Intervention: whole genome sequencing

Sponsor: Hospital do Coracao

The goal of this observational study is to develop a registry of Brazilian patients with hereditary cardiovascular diseases, combining clinical and genomic data. The main questions it aims to answer are:

Ages not specified27 locations
Started Apr 2025Updated 4 months agoEst. Aug 2026
RECRUITINGPHASE2No updates in a whileNCT07263139

Safety, Tolerability, and Exploratory Efficacy of AGP100 in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Intervention: AGP100

Sponsor: Agiana Pharmaceuticals

This trial is conducted in patients with an inherited heart rhythm disorder called catecholaminergic polymorphic ventricular tachycardia (CPVT). This condition causes the heart to beat dangerously fast during situations of physical or emotional stress. CPVT is a serious condition...

Ages 18 Years – 75 Years1 location
Started Jan 2026Updated 9 months agoEst. Jun 2027 (~9 months)
RECRUITINGHasn't posted an update in over a yearNCT02824822

Genetic Markers of Cardiovascular Disease in Epilepsy

Sponsor: Mayo Clinic

Epilepsy is a common condition which affects over 3 million people in the US. Patients with uncontrolled epilepsy have a lifetime risk of sudden unexpected death (SUDEP) of 35%, which is greatest in those under 40 years of age. The exact mechanisms and causes are not understood b...

Ages 18 Years – 50 Years1 location
Started May 2016Updated 1 year agoEst. Dec 2031 (~5y 3m)
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Related Cardiovascular Conditions

Other rare diseases in the cardiovascular category. Patients with Catecholaminergic Polymorphic Ventricular Tachycardia may find relevant research, shared treatment pathways, or overlapping clinical trials among these related conditions.

Companies Developing Catecholaminergic Polymorphic Ventricular Tachycardia Treatments

1 pharmaceutical company has Catecholaminergic Polymorphic Ventricular Tachycardia in their rare disease portfolio

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