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Arrhythmogenic Cardiomyopathy (ACM) Clinical Trials

Also called ACM, arrhythmogenic right ventricular cardiomyopathy, ARVC

Arrhythmogenic cardiomyopathy (ACM, formerly called arrhythmogenic right ventricular cardiomyopathy or ARVC) is a rare genetic heart disease characterized by fibro-fatty replacement of cardiac myocardium, predominantly affecting the right ventricle though biventricular involvement develops with disease progression. The disease is caused by mutations in genes encoding desmosomal proteins—cellular adhesion molecules responsible for maintaining tissue integrity—with mutations in DSG2 (desmoglein-2), TMEM43, and DSP being most common.

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About Arrhythmogenic Cardiomyopathy

Arrhythmogenic cardiomyopathy (ACM, formerly called arrhythmogenic right ventricular cardiomyopathy or ARVC) is a rare genetic heart disease characterized by fibro-fatty replacement of cardiac myocardium, predominantly affecting the right ventricle though biventricular involvement develops with disease progression. The disease is caused by mutations in genes encoding desmosomal proteins—cellular adhesion molecules responsible for maintaining tissue integrity—with mutations in DSG2 (desmoglein-2), TMEM43, and DSP being most common.

These mutations impair intercellular adhesion, leading to myocyte death and replacement by fibrous and fatty tissue. Progressive conduction system disease develops with altered electrical properties facilitating re-entrant arrhythmias.

Patients present with palpitations and syncope from ventricular arrhythmias, or catastrophically with sudden cardiac death. Characteristic ECG findings include epsilon waves (small electrical deflections after QRS), low QRS voltages, and T wave inversions in anterior leads. Cardiac imaging shows right ventricular dilatation and regional wall motion abnormalities with intramural fat infiltration visible on cardiac MRI. Arrhythmias are often exercise-induced and may be exercise-triggered, making risk stratification critical. Progressive disease leads to biventricular involvement and congestive heart failure.

Common Symptoms of Arrhythmogenic Cardiomyopathy

Recognizing the signs of Arrhythmogenic Cardiomyopathy 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.

  • Palpitations and syncope from arrhythmias
  • Epsilon waves on ECG
  • Sudden cardiac death risk
  • Progressive dyspnea and fatigue
  • Right ventricular dysfunction on imaging
  • Atrial fibrillation

Who Arrhythmogenic Cardiomyopathy Affects

Arrhythmogenic cardiomyopathy often manifests in adolescence or early adulthood with palpitations or syncope, though disease presentation varies considerably. Some individuals remain asymptomatic and are identified through family screening.

The condition affects males and females, though males are at notably higher risk for sudden cardiac death. Autosomal dominant inheritance is most common, with approximately 50% of offspring of affected parents inheriting mutations. Rare autosomal recessive forms exist, particularly in populations with consanguinity.

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Status as each foundation showed it on September 28, 2026.

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Genetic Testing

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Trusted Arrhythmogenic Cardiomyopathy Resources

Reputable organizations and medical references for learning more about Arrhythmogenic Cardiomyopathy, including disease registries, foundation resources, and clinical guidelines.

Active Clinical Trials for Arrhythmogenic Cardiomyopathy

Use this Arrhythmogenic Cardiomyopathy clinical trial finder to see the 23 studies recruiting patients and 2 opening soon 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.

35 active trials worldwide
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RECRUITINGRecently updatedNCT07849764

Subcutaneous ICD Eligibility Over Time in Arrhythmogenic Cardiomyopathy

Intervention: Subcutaneous ICD ECG screening

Sponsor: University of Sao Paulo

The goal of this observational study is to learn whether adults with arrhythmogenic cardiomyopathy, an inherited heart muscle disease that can cause dangerous heart rhythms, remain eligible for a subcutaneous implantable cardioverter-defibrillator (S-ICD) over time.

Ages 18 Years+1 location
Started Jul 2026Updated 4 days agoEst. Jul 2028 (~1y 10m)
RECRUITINGRecently updatedNCT06409585

Cardiomyopathies and Heart Muscle Diseases: Cardiac Imaging in the Evaluation of Myocardial Fibrosis Transition

Intervention: 68Ga-FAPI or 18F-AlF-FAPI cardiac PET-MR, Echocardiogram, Cardiac MRI

Sponsor: University of Edinburgh

Heart scarring, also known as fibrosis, plays a major role in a lot of heart muscle abnormalities. These abnormalities of the heart muscle can lead to major issues such as symptoms of heart failure, dangerous heart rhythm disturbances and even death. However, a lot of these condi...

Ages 30 Years – 90 Years1 location
Started May 2023Updated 1 month agoEst. Aug 2027 (~10 months)
RECRUITINGRecently updatedNCT06610019

Cardiovascular Multimodality Imaging Study

Sponsor: Montefiore Medical Center

Determining the etiology of cardiomyopathy is of high clinical importance for optimal treatment strategy and prediction of prognosis. There is increased risk for cardiovascular disease and higher propensity for cardiovascular related mortality among Black and non-Hispanic White p...

Ages 18 Years+1 location
Started May 2023Updated 1 month agoEst. Dec 2031 (~5y 2m)
NOT YET RECRUITINGNARecently updatedNCT07708311

Cardiac Rehabilitation in Patients With High-Genetic-Risk Arrhythmogenic Cardiomyopathy: The HGEN-CARE-AC Trial

Intervention: Cardiac Rehabilitation Programme

Sponsor: Juan Jiménez Jáimez

The goal of this clinical trial is to evaluate a structured and personalized cardiac rehabilitation program for patients diagnosed with arrhythmogenic cardiomyopathy (ACM) who carry high-risk genetic mutations. Historically, physical exercise has been strictly restricted in these...

Ages 18 Years+
Started Sep 2026Updated 2 months agoEst. Sep 2026
NOT YET RECRUITINGRecently updatedNCT07688200

Treatment Registry of Arrhythmias, Complications and Electrocardiograms in Arrhythmogenic CardioMyopathies

Sponsor: Policlinico Casilino ASL RMB

TRACE-ACM is a multicenter, retrospective, observational study of patients with arrhythmogenic cardiomyopathy who received an implantable cardioverter-defibrillator (ICD) and had documented ventricular tachyarrhythmias. The study aims to describe the prevalence and type of ICD-re...

Ages 18 Years+
Started Jul 2026Updated 2 months agoEst. Dec 2027 (~1y 2m)
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Active trial locations18 cities in the US
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Trial Pipeline

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Data from ClinicalTrials.gov, U.S. National Library of Medicine.
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Related Cardiovascular Conditions

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

Companies Developing Arrhythmogenic Cardiomyopathy Treatments

2 pharmaceutical companies have Arrhythmogenic Cardiomyopathy in their rare disease portfolio

Frequently Asked Questions About Arrhythmogenic Cardiomyopathy