CardiomyopathiesNCT06644742
PKP2-ACM Natural History Study
An observational study of Cardiomyopathies and Heart Diseases, run by Rocket Pharmaceuticals Inc. at 3 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Cardiomyopathies, Heart Diseases, Cardiovascular Diseases
- How many people
- 36 participants
- Where
- 3 sitesin 2 countries
- Study dates
- 15 May 2026to Apr 2031
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients 12 years of age and over with confirmed PKP2-ACM.
Who may be able to join
- Patients must meet all the following criteria (and none of the exclusion criteria) to be eligible for study participation:
- 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
Who cannot join
- 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.
Show all 10Show fewer
- 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.
- Unwillingness to comply with study procedures, including follow-up as specified by this protocol, or unwillingness to fully cooperate with the investigator.
Trial locations and contacts
3 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
3 sites in 2 countries
United States2 sites, 2 recruiting
- Recruiting
Boston Children's Hospital
Boston, Massachusetts, 02116
Dominic Abrams, MD, 617 355-6955, dominic.abrams@cardio.chboston.org
Dominic Abrams, MD
- Recruiting
Duke University
Durham, North Carolina, 27710
James Daubert, MD, 919-681-4294, james.daubert@duke.edu
James Daubert, MD
Netherlands1 site, 1 recruiting
- Not yet recruiting
Amsterdam UMC
Amsterdam, 1105 AZ
Ahmed S Amin, MD, +31205663992, a.s.amin@amsterdamumc.nl
Ahmed Amin, MD
About this study
Official title: The Natural History of Arrhythmogenic Cardiomyopathy With Pathogenic Plakophilin-2 Variants (PKP2-ACM): An Observational Cohort Study
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.
Read the 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.
- Keywords
- Arrhythmogenic Cardiomyopathy, Plakophilin-2, Arrhythmogenic Cardiomyopathy (AC, ARVD/C), PKP2
- Medical subject headings
- Cardiomyopathies, Heart Diseases, Cardiovascular Diseases, Genetic Diseases, Inborn, Arrhythmogenic Right Ventricular Dysplasia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Prospective and Retrospective Cohort (No Intervention) | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Heart rhythm and rate monitoring measures
Evaluate electrophysiology as assessed by heart rate and rhythm
Measured: 36 months
Cardiac biomarkers
Evaluate heart health as assessed by cardiac biomarkers
Measured: 36 months
Secondary outcomes (6)
Characterize cardiovascular events
Evaluate cardiovascular health as assessed by the occurrence of clinical outcomes related to the cardiovascular system
Measured: 36 months
Evaluate patient reported outcomes and quality of life measures
Evaluate patient reported outcomes and quality of life measures through questionnaires.
Measured: 36 months
Interrogate ICDs
Evaluate heart health as assessed by interrogation of implanted cardioverter defibrillator
Measured: 36 months
Evaluate changes in health status
Evaluate changes in health status as assessed by occurrence of clinical outcomes
Measured: 36 months
Cardiac Structure and Performance
Evaluating heart changes through measures of cardiac structure and performance with echocardiogram.
Measured: 36 months
Evaluate genetics
Assess association with cardiomyopathy as assessed by additional genetic testing.
Measured: Cross sectional
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Oct 2024
- Study start15 May 2026
- Primary completionDec 2030 (estimated)
- Study completionApr 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CardiomyopathiesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 36 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Rocket Pharmaceuticals Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06644742
- Sponsor's protocol ID
- RP-NI-A601-0124
- Status last verified
- Oct 2026
- First submitted
- 11 Oct 2024
- Last updated
- 14 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Natural History of Arrhythmogenic Cardiomyopathy With Pathogenic Plakophilin-2 Variants (PKP2-ACM): An Observational Cohort Study
- ClinicalTrials.gov ID
- NCT06644742
- Acronym / sponsor ID
- RP-NI-A601-0124
- Keywords
- Arrhythmogenic Cardiomyopathy, Plakophilin-2, Arrhythmogenic Cardiomyopathy (AC, ARVD/C), PKP2
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 36 participants (estimated)
- Lead sponsor
- Rocket Pharmaceuticals Inc.Industry (pharma, biotech, devices)
- Study start
- 15 May 2026 (actual)
- Primary completion
- Dec 2030 (estimated)
- Study completion
- Apr 2031 (estimated)
- First posted
- 16 Oct 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Prospective and Retrospective Cohort (No Intervention) | – | – |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients 12 years of age and over with confirmed PKP2-ACM.
Key inclusion criteria (7 listed)
- Patients must meet all the following criteria (and none of the exclusion criteria) to be eligible for study participation:
- 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
Key exclusion criteria (10 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Heart rhythm and rate monitoring measures
Time frame: 36 months
Evaluate electrophysiology as assessed by heart rate and rhythm
Cardiac biomarkers
Time frame: 36 months
Evaluate heart health as assessed by cardiac biomarkers
6 secondary outcomes
Characterize cardiovascular events
Time frame: 36 months
Evaluate patient reported outcomes and quality of life measures
Time frame: 36 months
Interrogate ICDs
Time frame: 36 months
Evaluate changes in health status
Time frame: 36 months
Cardiac Structure and Performance
Time frame: 36 months
Evaluate genetics
Time frame: Cross sectional
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Oct 2026.
- Individual participant dataSharing planned: No
Related trials for Cardiomyopathies
Not yet recruiting
Human Experimental Models of Pain (HEMP)
Acute Pain
Not yet recruitingObservational study
PET/CT Imaging in Carriers of TTR Mutations
ATTR, ATTR Gene Mutation
Not yet recruiting
NHLBI SESAME (SEptal Scoring Along Midline Endocardium) Multi-Center Prospective Study Using Improvised Off-Label Devices
Hypertrophic Cardiomyopathy, Left Ventricular Outflow Obstruction
RecruitingPhase 1/2
An AAV Gene Therapy Trial of AFTX-201 in Adults With BAG3-Associated Dilated Cardiomyopathy (DCM)
Dilated Cardiomyopathy (DCM), BAG3 Mutation Associated Dilated Cardiomyopathy
Active, not recruiting
Microvascular Dysfunction Assessment to Predict Left Ventricular Reverse Remodeling
Heart Failure, Left Ventricular Dysfunction
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
3 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cardiomyopathies and Heart Diseases, run by Rocket Pharmaceuticals Inc. at 3 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 14 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Clinical Information (646-627-0033, clinicaltrials@rocketpharma.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Heart rhythm and rate monitoring measures (time frame: 36 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Oct 2026.