RecruitingOBSERVATIONAL

Non-interventional Study of Seroprevalence of Pre-existing Antibodies Against Adenovirus-associated Virus Vector (AAV9) and the Progression of Disease in Patients With Plakophilin 2 (PKP2)-Associated Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

This study is for people aged 14 to 65 who have a heart condition called Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) that is linked to a specific change in the PKP2 gene. It's called a 'non-interventional' study because you won't be given any new treatments or medicines. Instead, researchers want to observe how your condition changes over time naturally. They will also check your blood for certain antibodies (AAV9) that could be important for future gene therapy treatments. Taking part means sharing information from your regular doctor's appointments and possibly giving a blood sample each year for up to five years. This helps experts understand ARVC better and develop new treatments.

At a glance

Status

Recruiting

Sponsor

Tenaya Therapeutics

Enrolment target

200

Start

31 Jan 2023

Estimated completion

11 Jul 2030

Arrhythmogenic Right Ventricular Cardiomyopathy

What is this study about?

This study is looking into a heart condition called Arrhythmogenic Right Ventricular Cardiomyopathy, or ARVC. Specifically, it focuses on ARVC caused by a change in a gene called PKP2. This is a "non-interventional" study, which means that if you join, you won't be given any new medicines, treatments, or experimental procedures. Instead, the doctors want to observe how your condition naturally changes and develops over time.

The main goals are twofold: firstly, to understand the natural journey of ARVC in people with this specific gene change. This helps doctors learn more about the condition and how it progresses. Secondly, the study will check for certain antibodies (called AAV9) in your blood. These antibodies are important because if you have them, they might affect whether you could receive certain gene therapy treatments in the future. Collecting this information now helps researchers prepare for developing new treatments.

Even if you're not interested in gene therapy, or if you don't think you'd be eligible, your participation is really valuable. By taking part, you're helping doctors and scientists learn more about ARVC. This knowledge can lead to better care and the development of new treatments for people living with this condition in the future.

Key takeaways

This study observes ARVC caused by a specific gene (PKP2).
No new medicines or treatments will be given; it's about watching your condition.
Researchers will check for certain antibodies (AAV9) important for future gene therapies.
Participation helps scientists learn more about ARVC and develop better treatments.
You'll continue your usual medical care; study involves sharing data and annual blood tests.
You can stop participating at any time.

Who may be eligible?

To be able to join this study, you need to be between 14 and 65 years old. You must have been diagnosed with ARVC and meet specific criteria for the condition, and also have a confirmed change in your PKP2 gene. You should also have an implanted heart device (like an ICD) that is working properly.

There are some reasons why you might not be able to join. For example, if you are currently taking certain strong medications that affect your immune system, or medicines for certain infections like Hepatitis B or C, or HIV. You also can't have had a heart transplant or have been given any gene therapy before, even if it was for a different condition.

Finally, if you are already taking part in another clinical trial where you are given a new medicine or treatment, you generally can't join this study at the same time. However, if you are in another observational study (like this one), you might still be able to join, but this would be decided by the doctors.

Quick self-check

Are you between 14 and 65 years old?
Do you have ARVC diagnosed by a doctor, linked to a PKP2 gene change?
Do you have an implanted heart device (like an ICD) that works?
Are you not currently on certain strong immune-suppressing medicines or have a history of specific infections (like Hepatitis B/C, HIV)?
Have you never had gene therapy or a heart transplant?
Are you generally not in another clinical trial that gives you new treatments?

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

If you decide to take part in this study, you won't be given any new medications or treatments. You will continue to receive your usual medical care from your own doctors. The study will involve sharing information from your regular doctor's appointments and assessments. You'll have blood samples taken once a year to check for certain markers related to your heart and other health indicators for up to five years. You might also be asked to complete questionnaires about your well-being and quality of life.

If it’s not already part of your usual care, you'll need to have an annual heart monitor (like a Holter monitor) fitted for a period to check your heart rhythm. With your permission, there might also be a one-time blood sample collection to look at your genetic information for research. The study will last for up to five years, but you are free to stop participating at any time.

Potential risks and benefits

Taking part in this study won't directly improve your health, as you won't receive any new treatments. However, a potential benefit is that your detailed health information will help doctors and researchers better understand ARVC and develop new treatments for others in the future. The risks are generally low, mainly involving the minor discomfort and very small chance of bruising or infection from annual blood draws. You also have the right to withdraw from the study at any time without giving a reason, and this will not affect your usual medical care.

Locations (21)

University of California San Francisco
San Francisco, United States· Recruiting
University of Colorado, Denver
Aurora, United States· Recruiting
John Hopkins University School of Medicine
Baltimore, United States· Recruiting
Brigham and Women's Hospital
Boston, United States· Recruiting
Mayo Clinic
Rochester, United States· Recruiting
New York University
New York, United States· Recruiting
Cleveland Clinic
Cleveland, United States· Recruiting
Medical University of South Carolina
Charleston, United States· Recruiting
Hopital Louis Pradel
Bron, France· Recruiting
Nantes University Hospital
Nantes, France· Recruiting
Pitié-Salpêtrière Hospital
Paris, France· Recruiting
Hôpital Haut-Lévêque
Pessac, France· Recruiting

+9 more sites — see the official record for the full list.

Common questions

What is ARVC?

ARVC is a heart condition where some of the heart muscle is replaced by fatty and fibrous tissue, which can cause irregular heartbeats.

What is a 'non-interventional' study?

This means you won't be given any new medicines or treatments; doctors will simply observe your health and gather information from your usual care.

Why do you need to check for AAV9 antibodies?

AAV9 antibodies are important because their presence might affect whether new gene therapy treatments could work for you in the future.

Will taking part involve extra doctor's visits?

You'll continue your usual care. The study will gather information from these visits and might involve an annual blood draw and possibly an annual heart monitor, if not already part of your routine.

How long will I be in the study?

The study will collect information for up to five years, but you can choose to stop participating at any time.

How to find out more

Matthew Pollman, MD

mpollman@tenayathera.com 650-209-8092 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.