Assessing patient characteristics and clinical course for those with PKP2-ACM
Official title: 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)
Run by Lexeo Therapeutics · NCT06976606 · Data updated 2026-11-12
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 type | Observational |
|---|---|
| Ages | 18 Years to 65 Years |
| Sex | All |
| Enrollment | 40 (estimated) |
| Sponsor | Lexeo Therapeutics Industry-sponsored |
| Locations | 6 sites (Redwood City, California and 5 other locations) |
| Status | Recruiting |
| Started | January 23, 2024 |
| Main results expected | July 2027 |
| Study ends | September 2027 |
| Registry record updated | May 16, 2025 |
| Trial ID | NCT06976606 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include adults diagnosed with arrhythmogenic cardiomyopathy who have a documented pathogenic variant in PKP2 and have an ICD placed.
✕Probably not a fit
Patients with additional pathogenic variants or severe heart failure symptoms may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
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 it's running
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Leland Stanford Junior University
Redwood City, California, United States Recruiting -
Johns Hopkins University
Baltimore, Maryland, United States Recruiting -
Northshore University Healthsystem Research Institute
Columbia, Maryland, United States Recruiting -
University of Michigan
Ann Arbor, Michigan, United States Recruiting -
Henry Ford Hospital
Detroit, Michigan, United States Recruiting -
University of Rochester
Rochester, New York, United States Recruiting
Study contacts
- Study coordinator: Person*: Lexeo Clinical Trials
- Email: clinicaltrials@lexeotx.com
- Phone: 212-547-9879
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.