Cardiomyopathies, Cardiovascular Diseases, Genetic Diseases, Heart Diseases
Conditions
Keywords
Arrhythmogenic Cardiomyopathy, Plakophilin-2, Arrhythmogenic Cardiomyopathy (AC, ARVD/C), PKP2
Brief summary
The goal of this study is to describe the natural history and clinical events for patients who have Arrhythmogenic Cardiomyopathy with Pathogenic Plakophilin-2 Variants (PKP2-ACM) managed with standard of care.
Detailed description
This is an observational study with both retrospective and prospective data collection. The study is designed to describe the natural history of PKP2-ACM including the signs and symptoms, key clinical events, and impact of the disease on quality of life. A hybrid (retrospective and prospective data collection) approach is being taken with the aim of achieving robust and longitudinal data generation.
Interventions
None listed
Sponsors
Rocket Pharmaceuticals Inc.
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
12 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Patients must meet all the following criteria (and none of the
Exclusion criteria
) to be eligible for study participation: 1. Male or female age 12 years or older at the time of providing informed consent (i.e., ICF provision). 2. Capable and willing to provide signed informed consent and/or assent, which includes compliance with the requirements and restrictions listed in the ICF and protocol. 3. Clinical diagnosis of arrhythmogenic cardio myopathy (ACM) 4. Documentation of a pathogenic or likely pathogenic variant in PKP2 by a CLIA-certified genetic testing laboratory 5. History of ICD implantation ≥6 months prior to ICF provision 6. Left ventricular ejection fraction by echocardiogram or cardiac magnetic resonance (CMR) ≥50% at ≤12 months prior to ICF provision
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Heart rhythm and rate monitoring measures | 36 months | Evaluate electrophysiology as assessed by heart rate and rhythm |
| Cardiac biomarkers | 36 months | Evaluate heart health as assessed by cardiac biomarkers |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Characterize cardiovascular events | 36 months | Evaluate cardiovascular health as assessed by the occurrence of clinical outcomes related to the cardiovascular system |
| Evaluate patient reported outcomes and quality of life measures | 36 months | Evaluate patient reported outcomes and quality of life measures through questionnaires. |
| Interrogate ICDs | 36 months | Evaluate heart health as assessed by interrogation of implanted cardioverter defibrillator |
| Evaluate changes in health status | 36 months | Evaluate changes in health status as assessed by occurrence of clinical outcomes |
| Cardiac Structure and Performance | 36 months | Evaluating heart changes through measures of cardiac structure and performance with echocardiogram. |
| Evaluate genetics | Cross sectional | Assess association with cardiomyopathy as assessed by additional genetic testing. |
Countries
Netherlands, United States
Contacts
CONTACTClinical Information
Outcome results
None listed