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Study on the Safety and Efficacy of Avalglucosidase Alfa for Patients Aged 5 and Older with Non-Classic Pompe Disease

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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying the effects of a treatment for Pompe disease, specifically the non-classic form of this condition. Pompe disease is a rare genetic disorder that affects the body's ability to break down a complex sugar called glycogen, leading to muscle weakness and other health issues. The treatment being tested in this study is called avalglucosidase alfa, which is also known by the code name Nexviadyme. This medication is given as a solution through an intravenous infusion, which means it is administered directly into the bloodstream through a vein.

The purpose of the study is to explore the safety and effectiveness of avalglucosidase alfa in patients aged 5 years and older who have non-classic Pompe disease and are experiencing a decline in their condition despite receiving standard treatment. Participants in the study will receive avalglucosidase alfa and will be monitored for any side effects or improvements in their health. The study will look at various aspects of the participants' health, including muscle strength, muscle function, and lung function, to determine how well the treatment works.

Throughout the study, researchers will assess the safety of avalglucosidase alfa by keeping track of any adverse events, such as infusion-related reactions, and by checking for the presence of antibodies against the medication. They will also conduct laboratory tests to evaluate liver and muscle function. The study aims to provide valuable information about the potential benefits and risks of using avalglucosidase alfa for treating non-classic Pompe disease, which could help improve treatment options for patients with this condition in the future.

The research process

The trial runs in 6 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Joining the study

    Upon joining the study, you will be informed about the trial's purpose, procedures, and potential risks and benefits. You will be asked to provide informed consent, which means you agree to participate after understanding all the details.

  2. Step 2

    Initial assessment

    An initial assessment will be conducted to evaluate your current health status. This includes checking your pulmonary function, muscle strength, and overall functional ability. These assessments help establish a baseline for your condition.

  3. Step 3

    Treatment administration

    You will receive the medication avalglucosidase alfa through an intravenous infusion. This means the medication will be delivered directly into your bloodstream through a vein. The dosage and frequency will be determined by the study team based on your specific needs.

  4. Step 4

    Regular monitoring

    Throughout the trial, your health will be regularly monitored. This includes checking for any side effects or adverse reactions to the medication. Blood tests may be conducted to evaluate liver and muscle function.

  5. Step 5

    Follow-up assessments

    Follow-up assessments will be conducted to measure changes in your muscle strength, muscle function, and pulmonary function. These assessments help determine the effectiveness of the treatment.

  6. Step 6

    Completion of the trial

    At the end of the trial, a final assessment will be conducted to evaluate your overall health and the impact of the treatment. You will be informed about the results and any further steps if necessary.

Who can join the trial?

9 criteria

  • Age between 5 and 55 years.
  • Onset of symptoms during childhood or as a juvenile/young adult.
  • Currently receiving enzyme-replacement therapy with alglucosidase alfa for at least 2 years (with a dose of 20 or 40 mg/kg every two weeks).
  • Confirmed diagnosis of the disease through enzyme deficiency in any tissue or two confirmed disease-causing changes in the GAA gene.
  • Willing and able to follow study procedures, with consent given by the patient and/or parent/guardian.
  • Experiencing worsening in lung function, walking ability (measured by a 6-minute walk test), or muscle strength despite current treatment.
  • Measurable lung function issues: Forced Vital Capacity (FVC) is 80% or less of what is predicted (use of mechanical ventilation during the day or night is allowed).
  • Measurable muscle weakness in muscles close to or far from the center of the body (patients who cannot walk and use a wheelchair are allowed).
  • Measurable ability to perform daily activities.

Who cannot join the trial?

3 criteria

  • Patients who do not have **Glycogen storage disease type II**, also known as **Pompe disease**, cannot participate.
  • Patients younger than **5 years old** cannot participate.
  • Patients whose clinical condition is not getting worse while on standard treatment with **alglucosidase alfa** cannot participate.
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Investigated drugs

  • Avalglucosidase alfa

    is a medication being studied for its potential to help people with non-classic Pompe disease. This condition is a rare genetic disorder that affects the muscles and other parts of the body. Avalglucosidase alfa is designed to replace a missing enzyme in the body that helps break down a type of sugar called glycogen. By doing this, it may help improve muscle function and slow down the progression of the disease.

  • Alglucosidase alfa

    is another medication used in the treatment of Pompe disease. It works similarly to avalglucosidase alfa by replacing the missing enzyme that helps break down glycogen in the body. This medication is part of the standard treatment for Pompe disease and aims to improve muscle strength and function in patients.

What is already known about the treatment

Avalglucosidase alfa – Avalglucosidase alfa is administered through an intravenous infusion, meaning it is given directly into a vein. It is currently being studied for its safety and effectiveness in treating non-classic Pompe disease, a condition where the body cannot break down a complex sugar called glycogen. This medication works by replacing a missing enzyme in the body, helping to break down glycogen into glucose, which the body can use for energy. It is classified as an enzyme replacement therapy and is being explored for patients whose condition worsens despite standard treatment with another enzyme replacement therapy called alglucosidase alfa.

Investigated diseases

Pompe disease – Pompe disease, also known as glycogen storage disease type II or acid maltase deficiency, is a genetic disorder caused by the buildup of glycogen in the body's cells. This accumulation occurs due to a deficiency of the enzyme acid alpha-glucosidase, which is responsible for breaking down glycogen into glucose. The disease primarily affects muscle tissue, leading to progressive muscle weakness and respiratory difficulties. In nonclassic Pompe disease, symptoms may appear later in childhood or adulthood and progress more slowly. Muscle weakness often begins in the legs and hips, gradually affecting the trunk and respiratory muscles. Over time, individuals may experience difficulty walking, climbing stairs, and maintaining posture.
Trial detailsLast updated 2 Oct 2026
Age18+ yearsPhasePhase IIITrial ID2024-518215-18-00Protocol codeGZ-2016-11512Estimated enrolment6 patientsSponsorErasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

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On this site, “treatment” means an investigational medicine being studied in a clinical trial. Its safety and efficacy for the use being studied have not yet been confirmed, some participants may receive a placebo or a comparator medicine, and taking part does not guarantee any health benefit. The decision to take part is made by the doctor at the research site. This site is for information only and does not replace medical advice.

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