Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC
Conditions
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
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.
Interventions
None listed
Sponsors
Lexeo Therapeutics
Study design
Observational model
CASE_ONLY
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
18 Years to 65 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Premature ventricular contractions (PVC) | 12 months | Change from baseline |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| ECG parameters | 12 months | Change from baseline |
| Cardiac structure and function | 12 months | Change from baseline via cardiac MRI and echocardiogram |
| Ventricular arrhythmias and associated clinical events | 12 months | Change from baseline by interrogation of implanted cardioverter defibrillator and remote cardiac monitoring |
| Cardiac Biomarkers | 12 months | Change from baseline |
| Health resource utilization | 12 months | Number of ED, urgent care and outpatient visits, and hospitalizations |
| Patient reported outcomes | 12 months | Patients' Global Impression of Change (PGIC) scale, measuring participant perception of change from baseline. |
Countries
United States
Contacts
Primary ContactPerson*: Lexeo Clinical Trials
Outcome results
None listed