RecruitingPHASE2INTERVENTIONAL

A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease

This study is a research trial exploring a new approach for Danon Disease, a rare genetic condition. It focuses on a treatment called RP-A501, which is a type of gene therapy. Gene therapy works by delivering a correct version of a faulty gene to the body. Specifically, this treatment uses a harmless virus to carry a gene that makes a protein called LAMP2B, which is often missing or doesn't work correctly in people with Danon Disease. The main goals of this Phase 2 study are to see if RP-A501 is safe for patients and if it can help improve their health. This trial is only open to male patients aged 8 years and older who have Danon Disease.

At a glance

Status

Recruiting

Phase

PHASE2

Sponsor

Rocket Pharmaceuticals Inc.

Enrolment target

Start

05 Sep 2023

Estimated completion

01 Apr 2032

Danon Disease

What is this study about?

This research study is about a new treatment called RP-A501 for a rare genetic condition known as Danon Disease. Danon Disease can cause serious health problems, especially affecting the heart, muscles, and sometimes the brain. It's caused by a problem with a specific gene that leads to not enough of a crucial protein called LAMP2B. Without enough of this protein, cells inside the body can't clean up waste properly, leading to damage over time.

The experimental treatment, RP-A501, is a type of 'gene therapy'. Imagine it like delivering a missing instruction manual to your cells. In this case, a harmless virus is used as a delivery truck to carry a working copy of the gene that makes the LAMP2B protein. The hope is that by providing this working gene, the body's cells will start producing the necessary protein, which could help reduce the symptoms and progression of Danon Disease.

This is a 'Phase 2' study, which means researchers are still in the process of carefully checking if the treatment is both safe and effective in a small group of patients. It's an important step in understanding if RP-A501 could become a useful treatment option in the future. The study is specifically looking at male patients because Danon Disease often affects them more severely.

Key takeaways

This is a gene therapy study for Danon Disease.
It's a Phase 2 trial, testing safety and effectiveness.
Only male patients aged 8 and older can join.
The treatment involves a single infusion of RP-A501.
Participation includes regular health check-ups.
There are potential benefits and risks, like any new treatment.

Who may be eligible?

This study is looking for male patients aged 8 years or older who have an official diagnosis of Danon Disease. This diagnosis must be confirmed by a genetic test showing a fault in the `LAMP2` gene.

To be considered, your heart must show some signs of the disease, specifically a thickening of the heart muscle walls, but your heart's main pumping function (ejection fraction) should still be at 50% or better. Your heart symptoms should be classified as NYHA Class II or III, meaning you experience some limits with ordinary activity or feel comfortable at rest but get symptoms with less than ordinary activity. Also, a specific heart marker called high sensitivity Troponin I needs to be slightly elevated.

You cannot join the study if you've had severe heart failure, or heart problems like clotting or previous heart attacks. You also can't have had a heart or other organ transplant. Importantly, you need to be able to stick to the study's plan, including visits and follow-up checks. If you have too many antibodies against the delivery virus used in the gene therapy, you also won't be able to participate.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you male?
Are you 8 years old or older?
Do you have a confirmed diagnosis of Danon Disease due to a `LAMP2` gene fault?
Has your doctor said your heart's main pumping function is still good, even if the walls are thickened?
Are your heart symptoms mild to moderate, allowing you to do most daily activities?
Have you *not* had severe heart failure, a heart transplant, or certain blood clot events like a stroke?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you would receive a single intravenous infusion of the study medicine, RP-A501. This means the medicine would be given directly into your bloodstream through a drip. After receiving the treatment, you would have regular check-ups and follow-up visits with the study doctors and nurses. These visits would involve various tests to monitor your health, how the treatment is affecting you, and to check for any side effects. These could include blood tests, heart scans, and other assessments. The study aims to follow patients for a longer period to understand the lasting effects of the gene therapy. The exact total duration of your participation would be explained in detail by the study team.

Potential risks and benefits

Patients who join this study might experience potential benefits if the gene therapy helps slow down or improve the symptoms of Danon Disease. However, as this is an experimental treatment, there's no guarantee of benefit. There are also potential risks involved, which are not yet fully known. These could include side effects from the gene therapy itself, from the infusion process, or allergic reactions. The study team will explain all known and potential risks in detail. Remember, taking part in any research study is completely voluntary, and you have the right to withdraw at any time without affecting your medical care.

Locations (6)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

University of California, San Diego
Verified postcode
La Jolla, United States· Recruiting
Boston Children's Hospital
Verified postcode
Boston, United States· Recruiting
Children's Hospital of Philadelphia
Verified postcode
Philadelphia, United States· Recruiting
German Heart Center Munich
Verified postcode
Munich, Germany· Recruiting
Meyer Childrens Hospital
Verified postcode
Florence, Italy· Recruiting
Great Ormund Street Hospital & UCL Institute of Cardiovascular Science
Verified postcode
London, United Kingdom· Recruiting

Common questions

What is Danon Disease?

Danon Disease is a rare genetic condition that primarily affects the heart, but can also impact other muscles and the brain. It's caused by a faulty gene.

What is gene therapy?

Gene therapy is a new type of treatment that tries to fix health problems by delivering a correct copy of a gene to the body's cells.

Is this treatment available to everyone with Danon Disease?

No, this is a research study (Phase 2 trial), so it's not a widely available treatment yet. It also has specific rules about who can join.

Will I get better if I join this study?

There's no guarantee you will get better. This study is being done to find out if the treatment is safe and if it can help people with Danon Disease.

Who can participate in this study?

This study is specifically for male patients aged 8 years or older with Danon Disease who meet certain health criteria, especially regarding their heart.

How to find out more

Clinical Information

clinicaltrials@rocketpharma.com 646-627-0033 Official trial record

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