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Researchers to track rare heart disease in 36 patients

NCT ID NCT06644742

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study aims to describe how a genetic heart condition called PKP2-ACM naturally progresses over time in people who receive standard care. Researchers will monitor heart rhythm, biomarkers, and quality of life in 36 participants aged 12 and older. The goal is to better understand the disease, not to test a new treatment.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 36 people

The number the study aims to enrol. It can still change while the study runs.

Expected to start

Mar 2026

An estimate. Start dates often move.

Expected to finish

Apr 2031

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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

Ages

12 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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 Exclusion Criteria Patients meeting any of the following criteria are excluded from study participation: 1. Gene testing indicates that the subject's arrhythmia or cardiomyopathy may be related to a genetic etiology other than PKP2 truncating variant. 2. Concurrent participation in any other clinical investigation involving use of an investigational agent that could confound results of this study. 3. Previous participation in a study of gene transfer or gene editing. 4. NYHA Class IV heart failure. 5. Presence or requirement for mechanical circulatory support (MCS) or predicted need for MCS or heart transplantation within 6 months of enrollment. 6. Prior cardiac or other organ (lung, liver, other) transplantation. 7. Pacemaker dependent rhythm documented, as assessed by the principal investigator ≤12 months prior to enrollment. 8. Positive human immunodeficiency virus (HIV) antibody test. 9. Unwillingness to comply with study procedures, including follow-up as specified by this protocol, or unwillingness to fully cooperate with the investigator.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    3 sites in 2 countries. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Amsterdam UMC

    NOT_YET_RECRUITING

    Amsterdam, 1105 AZ, Netherlands

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02116, United States

  • Duke University

    RECRUITING

    Durham, North Carolina, 27710, United States

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