Active not recruitingPHASE1, PHASE2INTERVENTIONAL

Gene Transfer Study in Patients With Late Onset Pompe Disease

This study is an early-stage clinical trial (Phase 1/2) investigating a new gene therapy called zocaglusagene nuzaparvovec, also known as AT845, for adults diagnosed with Late Onset Pompe Disease. The main goals are to check if the treatment is safe and how well it works. Participants will receive a single dose of AT845 through a drip. Researchers will test different dose levels to find the most suitable one. The study involves regular check-ups for about a year, followed by safety monitoring for up to 10 years. This research is important because it could offer a new way to manage Late Onset Pompe Disease, a condition that currently requires ongoing enzyme replacement therapy.

At a glance

Status

Active not recruiting

Phase

PHASE1, PHASE2

Sponsor

Astellas Gene Therapies

Enrolment target

Start

27 Oct 2020

Estimated completion

28 Feb 2035

Pompe Disease (Late-onset)

What is this study about?

This study, known as FORTIS, is looking at a new treatment called gene therapy for adults who have Late Onset Pompe Disease (LOPD). Pompe Disease is a rare genetic condition that causes weakness in muscles and can affect breathing. Currently, people with LOPD often receive regular enzyme replacement therapy (ERT) to help manage their symptoms.

Gene therapy works by introducing new genetic material into the body to help correct the underlying problem causing the disease. In this study, the new gene therapy, called AT845, is designed to help the body make more of a specific enzyme that people with Pompe Disease are missing. By doing this, doctors hope to see if it can improve muscle strength and overall health.

Because this is a new treatment, the study is split into two early phases (Phase 1/2). This means researchers are carefully checking for safety and starting to understand how well it works. They will test different amounts of the treatment to find the safest and most effective dose.

Key takeaways

It's an early-stage study (Phase 1/2) for a new gene therapy called AT845.
The study is for adults with Late Onset Pompe Disease.
Participants receive a single dose of the treatment via a drip.
The main goals are to check the treatment's safety and how well it helps.
Involves regular check-ups for about a year, then long-term safety follow-up for up to 10 years.

Who may be eligible?

To be considered for this study, you must be 18 years old or older and have a confirmed diagnosis of Pompe disease from a genetic test. You should have been receiving enzyme replacement therapy (ERT) for Pompe disease for at least two years and have been on a stable dose of this treatment for at least six months.

There are also some requirements about your breathing ability and how far you can walk. Your doctor will perform specific tests to see if you meet these criteria. You also need to agree to follow all the study appointments and procedures carefully.

However, you cannot take part if you are already in another study involving a treatment, or if you've had gene or cell therapy before. You'll also be excluded if you have certain antibodies (immune responses) to the treatment or have recently used certain immune-modifying medicines. Your study doctor will discuss all these details with you.

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 18 years old or older?
Do you have a genetically confirmed diagnosis of Pompe disease?
Have you been on stable enzyme replacement therapy (ERT) for at least 6 months, and for at least 2 years in total?
Can you comply with all study visits and procedures?
Are you currently not participating in another treatment study?

Answer every question to see your result.

What does participation involve?

If you join this study, you will receive a single dose of the study drug, AT845, which will be given through a drip into your vein. The amount you receive will be one of three different doses being tested.

After getting the treatment, you will have regular check-ups and assessments at the study clinic for about 48 weeks (roughly one year). These visits will help the doctors monitor your health and see how the treatment is working. Following this initial period, you'll continue to have safety follow-up visits every six months for up to 10 years. This longer follow-up is important to track the long-term effects of the gene therapy. You will also need to agree not to donate blood, blood products, sperm, or eggs for a certain period after receiving the treatment.

Potential risks and benefits

Participating in this study might offer the potential benefit of a new treatment for your Pompe disease that could possibly improve your condition. However, because this is a new gene therapy, there might be unknown risks or side effects that researchers are still learning about. Known potential risks will be thoroughly explained to you, which might include reactions to the infusion or effects on your immune system. You have the right to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (4)

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

University of California Irvine, Department of Neurology
Verified postcode
Orange, United States
Stanford University
Verified postcode
Palo Alto, United States
University of Utah, Division of Medical Genetics
Verified postcode
Salt Lake City, United States
Newcastle Upon Tyne Hospitals Foundation Trust Clinical Research Facility
Verified postcode
Newcastle upon Tyne, United Kingdom

Common questions

What is Late Onset Pompe Disease?

It's a rare genetic condition that usually appears in adulthood, causing muscle weakness and affecting breathing over time.

What is gene therapy?

Gene therapy aims to fix the root cause of certain diseases by introducing new genetic material into the body to help it work correctly.