Active not recruitingNAINTERVENTIONAL

A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease

This study aims to understand more about late-onset Pompe disease in people over 16. Researchers are looking at certain substances in the blood, called biomarkers, that provide information about the disease. They also want to measure antibody levels against a specific enzyme (GAA) and a common virus (AAV) used in gene therapy. This is important because antibodies can affect how well treatments work. Participants will have blood and urine tests over two years, but no new treatments will be given. The findings will help improve future ways to diagnose and treat Pompe disease.

At a glance

Status

Active not recruiting

Phase

Sponsor

Astellas Gene Therapies

Enrolment target

119

Start

01 Feb 2024

Estimated completion

30 Jun 2027

Pompe Disease (Late-onset)

What is this study about?

Pompe disease is a condition you are born with that causes muscles to become weaker over time. This happens because a special enzyme called GAA doesn't work correctly, leading to a build-up of a sugar called glycogen in your body's cells. Late-onset Pompe disease usually starts affecting people from about 12 months old onwards.

Currently, many people with Pompe disease receive regular infusions of the missing GAA enzyme, which is called enzyme replacement therapy. However, over time, some people's bodies might make special proteins called antibodies against this enzyme, which could make the treatment less effective. Scientists are also exploring a new treatment called gene therapy. This involves replacing the faulty gene with a working one, often using a harmless virus (like AAV) to carry the new gene into the cells. If you've had a natural infection with a similar virus before, you might have antibodies against it, which could stop the gene therapy from working well.

This study wants to learn more about the levels of these antibodies in people with late-onset Pompe disease. They also want to find other important substances in the blood, called biomarkers, that can give doctors more information about how the disease is progressing. By understanding these levels, researchers hope to improve how Pompe disease is diagnosed and treated in the future.

Key takeaways

Learn more about late-onset Pompe disease.
No new treatments given in this study.
Involves regular blood and urine tests over two years.
Helps understand how bodies react to existing or future treatments.
Ages 16-69 with late-onset Pompe disease can take part.
Your participation helps future research.

Who may be eligible?

This study is looking for people aged between 16 and 69 who have been diagnosed with late-onset Pompe disease. You could be considered if you have never had enzyme replacement therapy (ERT), or if you have been receiving ERT for at least six months.

However, you cannot take part if you have ever had gene therapy or any other treatment using an AAV-related product. You also cannot join if you are already in another Pompe disease study that involves a new treatment (unless it's an ERT study) or if you need breathing support while you are awake and sitting or standing up. You must also be able to walk, even if you use a walking aid like a cane.

It's important that you are willing and able to come to the study visits as required. Also, while you are in this study, you cannot start any new clinical study that involves a different medication, including new enzyme replacement therapies.

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.

Have you been diagnosed with late-onset Pompe disease?
Are you between 16 and 69 years old?
Have you *never* received gene therapy or any AAV-related treatment?
Are you either not currently on enzyme replacement therapy, or have you been on it for at least 6 months?
Can you walk, even if you use a walking aid?
Are you able to attend study visits as required?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you will have several visits to a study clinic, and some visits might even be at your own home. The first visit is to check if you are suitable for the study. If you are, you will have a medical check-up, and your 'vital signs' will be recorded. Vital signs include things like your blood pressure, heart rate, breathing rate, and temperature.

During the study, you won't be given any new treatments or medicines. Instead, the main part of your involvement will be giving blood and urine samples. These samples will be tested for antibody levels against the GAA enzyme and against the AAV8 virus. They will also be checked for those important biomarkers related to Pompe disease. You'll need to provide these blood and urine samples roughly every four months for up to two years. You can choose to leave the study at any time.

Potential risks and benefits

There are no direct benefits to your health from taking part in this study as no new treatments are given. However, your participation will help doctors and scientists understand late-onset Pompe disease better, which could lead to improved care and treatments for others in the future. The main risks involve the discomfort and potential bruising from blood draws, as with any blood test. You have the right to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (53)

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

Emory Clinic
Verified postcode
Atlanta, United States
University of Kansas Medical Center
Verified postcode
Kansas City, United States
University of Michigan
Verified postcode
Ann Arbor, United States
Children's Hospitals and Clinics of Minnesota
Verified postcode
Minneapolis, United States
Hackensack University Medical Center
Verified postcode
Hackensack, United States
University of Cincinnati
Verified postcode
Cincinnati, United States
University of Pennsylvania
Verified postcode
Philadelphia, United States
University of Pittsburgh Medical Center
Verified postcode
Pittsburgh, United States
University of UTAH - PPDS
Verified postcode
Salt Lake City, United States
Lysosomal and Rare Diseases Research and Treatment Center, Inc.
Verified postcode
Fairfax, United States
AU61003
Verified postcode
Adelaide, Australia
AU61001
Verified postcode
Herston, Australia

Common questions

What is late-onset Pompe disease?

It's a genetic condition causing gradual muscle weakness, usually starting from age one year or older, due to a missing or faulty enzyme.

Will I receive new treatment in this study?

No, this study does not involve giving any new treatments. It's an 'observational' study, meaning doctors are just observing and collecting information.

What are 'antibodies' and why are they important?

Antibodies are proteins made by your body's immune system. In this study, researchers are checking if your body has made antibodies against the GAA enzyme (treatment) or against a virus (used in gene therapy), which could affect how well treatments work.

What are 'biomarkers'?

Biomarkers are substances in your blood or urine that can give doctors information about your health or about a disease, helping them track its progress.

How long will I be in the study?

The study will last for about two years, with visits roughly every four months for blood and urine collections.