NCT06644742

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.

Trial Health

80
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
36

participants targeted

Target at P25-P50 for all trials

Timeline
60mo left

Started Mar 2026

Longer than P75 for all trials

Geographic Reach
2 countries

3 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress3%
Mar 2026Apr 2031

First Submitted

Initial submission to the registry

October 11, 2024

Completed
5 days until next milestone

First Posted

Study publicly available on registry

October 16, 2024

Completed
1.4 years until next milestone

Study Start

First participant enrolled

March 1, 2026

Completed
4.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2030

Expected
4 months until next milestone

Study Completion

Last participant's last visit for all outcomes

April 1, 2031

Last Updated

February 27, 2026

Status Verified

February 1, 2026

Enrollment Period

4.8 years

First QC Date

October 11, 2024

Last Update Submit

February 24, 2026

Conditions

CardiomyopathiesHeart DiseasesCardiovascular DiseasesGenetic Diseases

Keywords

Arrhythmogenic CardiomyopathyPlakophilin-2Arrhythmogenic Cardiomyopathy (AC, ARVD/C)PKP2

Outcome Measures

Primary Outcomes (2)

  • Heart rhythm and rate monitoring measures

    Evaluate electrophysiology as assessed by heart rate and rhythm

    36 months

  • Cardiac biomarkers

    Evaluate heart health as assessed by cardiac biomarkers

    36 months

Secondary Outcomes (6)

  • Characterize cardiovascular events

    36 months

  • Evaluate patient reported outcomes and quality of life measures

    36 months

  • Interrogate ICDs

    36 months

  • Evaluate changes in health status

    36 months

  • Cardiac Structure and Performance

    36 months

  • +1 more secondary outcomes

Study Arms (1)

Prospective and Retrospective Cohort (No Intervention)

Eligibility Criteria

Age12 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients 12 years of age and over with confirmed PKP2-ACM.

You may not qualify if:

  • Male or female age 12 years or older at the time of providing informed consent (i.e., ICF provision).
  • 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.
  • Clinical diagnosis of arrhythmogenic cardio myopathy (ACM)
  • Documentation of a pathogenic or likely pathogenic variant in PKP2 by a CLIA-certified genetic testing laboratory
  • History of ICD implantation ≥6 months prior to ICF provision
  • Left ventricular ejection fraction by echocardiogram or cardiac magnetic resonance (CMR) ≥50% at ≤12 months prior to ICF provision
  • Patients meeting any of the following criteria are excluded from study participation:
  • Gene testing indicates that the subject's arrhythmia or cardiomyopathy may be related to a genetic etiology other than PKP2 truncating variant.
  • Concurrent participation in any other clinical investigation involving use of an investigational agent that could confound results of this study.
  • Previous participation in a study of gene transfer or gene editing.
  • NYHA Class IV heart failure.
  • Presence or requirement for mechanical circulatory support (MCS) or predicted need for MCS or heart transplantation within 6 months of enrollment.
  • Prior cardiac or other organ (lung, liver, other) transplantation.
  • Pacemaker dependent rhythm documented, as assessed by the principal investigator ≤12 months prior to enrollment.
  • Positive human immunodeficiency virus (HIV) antibody test.
  • +1 more criteria

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

Boston Children's Hospital

Boston, Massachusetts, 02116, United States

RECRUITING

Duke University

Durham, North Carolina, 27710, United States

RECRUITING

Amsterdam UMC

Amsterdam, 1105 AZ, Netherlands

NOT YET RECRUITING

MeSH Terms

Conditions

CardiomyopathiesHeart DiseasesCardiovascular DiseasesGenetic Diseases, InbornArrhythmogenic Right Ventricular Dysplasia

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesHeart Defects, CongenitalCardiovascular AbnormalitiesCongenital Abnormalities

Central Study Contacts

Clinical Information

CONTACT

646-627-0033clinicaltrials@rocketpharma.com

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

October 11, 2024

First Posted

October 16, 2024

Study Start

March 1, 2026

Primary Completion (Estimated)

December 1, 2030

Study Completion (Estimated)

April 1, 2031

Last Updated

February 27, 2026

Record last verified: 2026-02

Data Sharing

IPD Sharing
Will not share

Locations

US(2)NL(1)