Clinical trial NCT06976606: A Study to Assess Real-world Patient Characteristics and Clinical Course for Symptomatic Patients 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)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Arrhythmogenic Cardiomyopathy
PKP2-ACM
PKP2-ARVC
Keywords: Arrhythmogenic Cardiomyopathy
ACM
Cardiomyopathy
ARVC
Arrhythmogenic Right Ventricular
Arrhythmogenic Right Ventricular Dysplasia
Genetic cardiomyopathy
Gene Therapy
PKP2 Gene
Plakophilin-2
LX2020
SNAPSHOT-PKP2
Ventricular Arrhythmia
PVCs
Sudden Cardiac Death
Cardiac Arrest
Lead sponsor: Lexeo Therapeutics
Sponsor class: INDUSTRY
First posted: 2025-05-16
Enrollment: 40
Sex: ALL
Minimum age (years): 18
Maximum age (years): 65
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients aged 18-65 years at time of consent with confirmed diagnosis of ACM and documentation of PKP2 variant.

Brief summary: An observational study to assess real-world patient characteristics and clinical course of disease in participants with PKP2-ACM.

Detailed description: SNAPSHOT-PKP2 is an observational, multicenter study that consists of 2 parts, a retrospective EMR review (up to 2 years) and a prospective observational study (1 year), to evaluate the clinical burden of illness of patients with PKP2-ACM, and to prospectively evaluate changes in key cardiac parameters and patient-reported outcome measures (PROMs) associated with PKP2-ACM progression.

Eligibility 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.

Primary outcomes:
measure: Premature ventricular contractions (PVC)
timeFrame: 12 months
Secondary outcomes:
measure: Ventricular arrhythmias and associated clinical events
timeFrame: 12 months
measure: ECG parameters
timeFrame: 12 months
measure: Cardiac structure and function
timeFrame: 12 months
measure: Patient reported outcomes
timeFrame: 12 months
measure: Patient reported outcomes
timeFrame: 12 months
measure: Cardiac Biomarkers
timeFrame: 12 months
measure: Health resource utilization
timeFrame: 12 months
Other outcomes:
Locations:
city: Redwood City
country: United States
facility: Leland Stanford Junior University
state: California
city: Baltimore
country: United States
facility: Johns Hopkins University
state: Maryland
city: Columbia
country: United States
facility: Northshore University Healthsystem Research Institute
state: Maryland
city: Ann Arbor
country: United States
facility: University of Michigan
state: Michigan
city: Detroit
country: United States
facility: Henry Ford Hospital
state: Michigan
city: Rochester
country: United States
facility: University of Rochester
state: New York
Study officials:
affiliation: Lexeo Therapeutics
name: Lexeo Clinical Trials
role: STUDY_DIRECTOR
References: