Assessing patient characteristics and clinical course for those with PKP2-ACM

An Observational Study to Assess Real-world Patient Characteristics, Clinical Course, and Treatment Patterns for Symptomatic Patients With Arrhythmogenic Cardiomyopathy (ACM) Due To a PlaKoPhilin-2 Pathogenic Variant (PKP2)

Lexeo Therapeutics · NCT06976606

This study looks at the experiences and health changes of people with PKP2-ACM over time to better understand the condition and its impact on their lives.

Quick facts

Study typeObservational
Enrollment40 (estimated)
Ages18 Years to 65 Years
SexAll
SponsorLexeo Therapeutics (industry)
Locations6 sites (Redwood City, California and 5 other locations)
Trial IDNCT06976606 on ClinicalTrials.gov

What this trial studies

This observational study, known as SNAPSHOT-PKP2, aims to evaluate the real-world characteristics and clinical progression of patients diagnosed with PKP2-ACM. It consists of two parts: a retrospective review of electronic medical records over the past two years and a prospective observational phase lasting one year. The study will assess the clinical burden of illness and monitor changes in key cardiac parameters and patient-reported outcomes associated with the progression of PKP2-ACM.

Who should consider this trial

Good fit: Ideal candidates include adults diagnosed with arrhythmogenic cardiomyopathy who have a documented pathogenic variant in PKP2 and have an ICD placed.

Not a fit: Patients with additional pathogenic variants or severe heart failure symptoms may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide valuable insights into the clinical course of PKP2-ACM, potentially leading to improved management strategies for patients.

How similar studies have performed: While this study focuses on a specific genetic variant, similar observational studies have shown success in understanding the clinical characteristics of other forms of cardiomyopathy.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Adults with a clinical diagnosis of ACM as defined by the 2010 revised Task Force Criteria (TFC)
* Documentation of a pathogenic or likely pathogenic truncating variant in PKP2
* Frequent premature ventricular contractions (PVCs)
* Patients must have an ICD placed prior to enrollment
* Left ventricular ejection fraction (LVEF) ≥ 50% for Part A participants. Left ventricular ejection fraction (LVEF) ≥40% for Part B participants.

Exclusion Criteria:

* Evidence of variant(s) in addition to PKP2 that meet standard criteria to be considered pathogenic or likely pathogenic for an arrhythmogenic cardiomyopathy.
* A history of other cardiac abnormalities as specified in the protocol.
* New York Heart Association symptoms of heart failure of Class IV at the time of consent.
* A history of prior gene transfer therapy.

Where this trial is running

Redwood City, California and 5 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.

View on ClinicalTrials.gov →

Conditions: Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC, ACM, Cardiomyopathy, ARVC, Arrhythmogenic Right Ventricular, Arrhythmogenic Right Ventricular Dysplasia

Last reviewed 2026-05-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.