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Study on the Effects of Alglucosidase Alfa Enzyme Therapy in Children and Adults with 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 focuses on studying the effects of enzyme therapy in individuals with Pompe disease, also known as glycogen storage disease type II or acid maltase deficiency. The treatment being used in this study is called Myozyme, which contains the active substance alglucosidase alfa. This medication is administered as a solution for infusion, meaning it is given directly into the bloodstream through a vein.

The purpose of the study is to increase understanding of the long-term effects of enzyme replacement therapy and to improve care for both children and adults with Pompe disease. Participants in the study will receive regular treatments with Myozyme and will be monitored over time to assess various health outcomes. These include survival, muscle strength and function, motor and mental development, lung function, heart health, hearing, and overall quality of life. The study also aims to gather information on the costs associated with Pompe disease and the impact of enzyme therapy on these costs.

Throughout the study, researchers will collect data to help develop guidelines for when to start or stop enzyme therapy and to determine the best dosing strategy. The study will also explore the possibility of safely administering enzyme therapy at home. By participating in this study, researchers hope to learn more about the ability of skeletal muscles to recover and grow in individuals with Pompe disease.

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, ensure that a proven diagnosis of Pompe disease is confirmed. This involves checking the deficiency of a specific enzyme activity in blood cells, skin cells, or muscle tissue, or identifying a mutation in the related gene.

    A skin biopsy may be required to assess the level of enzyme activity. Written informed consent must be obtained from you or your guardian if you are under 18 years of age.

  2. Step 2

    Initial evaluation

    An initial evaluation will be conducted to assess the severity of the disease. This includes checking lung function and muscle strength and function.

    The urgency of starting enzyme therapy will be determined based on this evaluation.

  3. Step 3

    Treatment approval

    The start of treatment must be approved by a specific committee. This is especially important for patients showing rapid disease progression or for children.

  4. Step 4

    Enzyme therapy administration

    You will receive Myozyme, which is a powder that is mixed to create a solution for infusion. This solution is administered through a vein, a process known as intravenous infusion.

    The dosage and frequency of the enzyme therapy will be determined based on your body weight or lean body mass. The therapy aims to increase knowledge about its long-term effects and improve care for patients with Pompe disease.

  5. Step 5

    Ongoing assessments

    Throughout the trial, regular assessments will be conducted to monitor various health aspects. These include survival, muscle strength and function, motor and mental outcomes, lung function, heart health, hearing, and overall quality of life.

    The trial also aims to gather data on the economic impact of Pompe disease and the effects of enzyme therapy on these costs.

  6. Step 6

    Trial duration

    The trial is expected to continue until June 22, 2025. During this time, data will be collected to support the continuation of reimbursement for the therapy and to develop guidelines for its use.

Who can join the trial?

9 criteria

  • The patient must have a confirmed diagnosis of Pompe disease. This means that tests have shown low activity of an enzyme called α-glucosidase in certain cells or tissues, or there is a known change (mutation) in the gene responsible for this enzyme. A small skin sample (biopsy) is needed to check the enzyme activity.
  • There is no age limit for joining the study. However, for children under 12 years old, the amount of blood taken for tests will be different.
  • The patient must have had at least one medical evaluation to check how severe the disease is and to decide if enzyme therapy is needed. This evaluation will include tests for lung function and muscle strength.
  • The order in which adult patients are included in the study is decided by a special committee. For patients whose disease is getting worse quickly or for children, the need for enzyme therapy will be considered individually.
  • The patient must show symptoms of Pompe disease, such as:
    • Weakness in the skeletal muscles (muscles that help move the body), or
    • Reduced lung function (less than 80% of normal when sitting), or
    • Enlarged heart muscle (cardiac hypertrophy).
    • The start of treatment must be approved by a special committee.
    • Written informed consent must be obtained from the patient. If the patient is under 18 years old, consent must be given by a parent or guardian.

Who cannot join the trial?

7 criteria

  • Patients who do not have a confirmed diagnosis of Pompe disease.
  • Patients who are unable to provide informed consent or do not have a legal representative to do so on their behalf.
  • Patients who are currently participating in another clinical trial that could interfere with this study.
  • Patients with any other medical condition that the study doctors believe would make it unsafe for them to participate.
  • Patients who have had a severe allergic reaction to the enzyme replacement therapy used in this study.
  • Patients who are pregnant or breastfeeding.
  • Patients who are not willing to follow the study procedures and requirements.
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Investigated drugs

Myozyme is a medication used in the treatment of Pompe disease, a rare genetic disorder. This medication is a type of enzyme replacement therapy, which means it helps to replace a missing or deficient enzyme in the body. In people with Pompe disease, the body lacks enough of an enzyme called acid alpha-glucosidase, which is necessary for breaking down a complex sugar called glycogen. Without this enzyme, glycogen builds up in the body's cells, causing damage. Myozyme works by providing the enzyme that is missing, helping to reduce the buildup of glycogen and improve muscle function. This therapy is used in both children and adults to manage the symptoms of Pompe disease and improve their quality of life.

What is already known about the treatment

Myozyme – Myozyme is administered through an intravenous infusion, meaning it is delivered directly into the bloodstream via a vein. It is currently recognized in medical literature as a treatment for Pompe disease, a rare genetic disorder that affects muscle function. The main therapeutic use of Myozyme is to replace a missing enzyme in individuals with Pompe disease, helping to break down glycogen, a type of sugar that accumulates in the body. At the molecular level, Myozyme works by providing the enzyme acid alpha-glucosidase, which is deficient in people with this condition, thereby reducing glycogen buildup in cells. It is classified pharmacologically as an enzyme replacement therapy.

Investigated diseases

Pompe disease – Pompe disease, also known as glycogen storage disease type II or acid maltase deficiency, is a genetic disorder that affects the body's ability to break down glycogen, a stored form of sugar used for energy. This disease is caused by a deficiency of the enzyme acid alpha-glucosidase, leading to the accumulation of glycogen in the body's cells. The buildup primarily affects muscle cells, causing progressive muscle weakness and affecting movement. In infants, it can lead to severe muscle weakness, heart problems, and breathing difficulties. In late-onset forms, symptoms may include muscle weakness, respiratory issues, and difficulty walking. The progression of the disease varies, with some individuals experiencing rapid decline while others have a slower progression.
Trial detailsLast updated 2 Oct 2026
Age18+ yearsPhasePhase IIITrial ID2024-518269-92-00Protocol codePompe phys 02Estimated enrolment156 patientsSponsorErasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

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