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Long‑term study of Pompe disease in all patients receiving alglucosidase alfa drug combination (miglustat, cipaglucosidase alfa, avalglucosidase alfa)

Verified siteRegistered drugNo placebo
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What is this trial about?

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

The study focuses on Pompe disease, a rare condition in which a missing enzyme causes a buildup of a sugar called glycogen in muscle and heart tissue, leading to weakness and breathing problems. Participants receive one of several approved treatments that replace the missing enzyme, including Myozyme, Pombiliti, and Nexviadyme, or may take the oral medication Opfolda that works in a different way. The main aim of the research is to investigate how the disease progresses over time in different age groups and with different therapies.

During the study, each person is seen regularly at the clinic where doctors assess muscle strength with simple movements, measure how far a person can walk in six minutes (the six minute walk test), and evaluate breathing ability by checking the amount of air that can be exhaled after a deep breath (called forced vital capacity) and whether they need a ventilator. Blood and urine samples are taken to look for markers that reflect disease activity, and additional heart checks are done for infants. These visits continue for many years, allowing researchers to track changes in muscle and lung function, overall health, and the impact of the treatments.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Initial enrollment and consent

    You will be asked to read information about the study and sign a consent form indicating that you agree to take part.

    The consent process includes an explanation of the purpose of the study, the procedures you will undergo, and the medications you may receive.

  2. Step 2

    Baseline assessments

    Before any medication is started, a series of tests will be performed to record your current health status.

    Muscle function will be evaluated with age‑appropriate tests such as the Alberta Infant Motor Scale, the Quick Motor Function test, or the Six Minute Walk Test depending on your age.

    Lung function will be measured using forced vital capacity (the amount of air you can exhale) while you are sitting and lying down, and the study will note whether you need a ventilator.

    Blood and urine samples will be taken to measure biomarkers such as creatine phosphokinase and urine tetraglucoside.

    For infant patients, heart function will be checked with an echocardiogram (ultrasound of the heart) and an electrocardiogram (recording of heart rhythm).

  3. Step 3

    Start of oral medication

    You will begin taking Opfolda capsules containing 260 mg of miglustat.

    The capsules are taken by mouth as directed by the study team; the exact schedule (for example, once daily) will be explained to you at the start of treatment.

  4. Step 4

    Intravenous infusion therapy

    You will receive one or more of the following medicines through an intravenous (iv) line, which means the drug is delivered directly into a vein:

    Myozyme: dose of 40 mg per kilogram of body weight, prepared as a solution for infusion.

    Pombiliti: dose of 20 mg per kilogram of body weight, prepared as a solution for infusion.

    Nexviadyme: dose of 40 mg per kilogram of body weight, prepared as a solution for infusion.

    Each infusion will be performed in a clinical setting under the supervision of trained staff. the frequency (for example, every two weeks) will be specified by the study protocol and explained to you.

  5. Step 5

    Regular follow‑up visits and monitoring

    Throughout the study, you will attend scheduled visits where the same set of assessments performed at baseline will be repeated.

    These visits will track changes in muscle strength, walking ability, lung capacity, and the need for ventilator support.

    Blood and urine tests will be repeated to monitor biomarker levels.

    If you are an infant, heart assessments will continue at regular intervals.

    The study will continue until the planned end date in 2051 or until you withdraw, whichever occurs first.

    Any adjustments to medication doses or schedules will be made by the study physicians based on your test results and overall health.

Who can join the trial?

5 criteria

  • Have a confirmed diagnosis of Pompe disease, which means lab tests show an enzyme deficiency (the body lacks or has very low levels of the enzyme that breaks down a sugar called acid maltase) in any tissue, or genetic testing shows two disease‑causing changes in the GAA gene.
  • Be between 2 and 4 years old (the study includes children in this age range).
  • Be either male or female (both sexes are accepted).
  • Be able and willing to follow the study visits and procedures, and sign an informed consent form (or have a parent or guardian sign if you are a minor).
  • Have already had at least one medical evaluation where a doctor measured the severity of the disease.

Who cannot join the trial?

1 criterion

  • If you are unable or unwilling to follow the study procedures (the steps the researchers ask participants to do, such as attending visits and completing tests), you cannot take part in the trial. This is called non‑compliance.
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Investigated drugs

  • Miglustat

    is an oral medicine taken by mouth. In this study it is being tested as a possible treatment to help reduce the buildup of harmful substances in the body of people with Pompe disease. Researchers want to see if it can slow disease progression when taken regularly.

  • Alglucosidase alfa

    is a medication given through an IV infusion. It replaces the missing enzyme that people with Pompe disease need, helping the body break down a sugar called glycogen that can build up in muscles and the heart. This therapy is a standard enzyme replacement treatment used to improve muscle and breathing function.

  • Cipaglucosidase alfa

    is also administered by IV infusion. It is a newer form of enzyme replacement that is designed to work better at reaching muscle tissue. The trial is testing whether this medicine can provide stronger or longer‑lasting benefits compared with existing treatments.

  • Avalglucosidase alfa

    is given by IV infusion as well. Like the other enzyme therapies, it supplies the missing enzyme to help clear glycogen from cells. The study is evaluating how well this newer enzyme works in improving muscle strength and lung function in people with Pompe disease.

What is already known about the treatment

  • Opfolda

    Opfolda comes as hard capsules that are taken by mouth; each capsule contains 65 mg of miglustat. Miglustat is an approved medicine for certain rare storage diseases and is being studied for use in Pompe disease. It works by slowing the production of a sugar molecule that builds up in cells, helping to keep the cells healthier. It is classified as a substrate‑reduction therapy.

  • Myozyme

    Myozyme is supplied as a powder that is mixed with liquid and given through an IV infusion; the dose is based on body weight. It is an approved enzyme‑replacement drug for Pompe disease and has been used in clinical practice for many years. The medicine provides the missing acid alpha‑glucosidase enzyme, which breaks down stored glycogen in muscle cells. It belongs to the enzyme‑replacement therapy class.

  • Pombiliti

    Pombiliti is a powder that is reconstituted and administered by IV infusion, also dosed by weight. It is an investigational enzyme‑replacement product currently being tested for Pompe disease. Like other enzymes for this condition, it supplies a version of acid alpha‑glucosidase that can enter cells and clear excess glycogen. It is categorized as an enzyme‑replacement therapy.

  • Nexviadyme

    Nexviadyme is provided as a powder for IV infusion, with dosing based on the patient’s kilogram weight. It has received regulatory approval for the treatment of Pompe disease and is used in regular care. The drug delivers a specially engineered acid alpha‑glucosidase enzyme that more efficiently reaches muscle tissue to break down glycogen buildup. It is also classified as an enzyme‑replacement therapy.

Investigated diseases

Pompe disease - Pompe disease is a rare inherited disorder caused by a deficiency of the enzyme acid alpha‑glucosidase, which leads to the buildup of glycogen in muscle cells. The excess glycogen gradually damages both skeletal and cardiac muscle, causing muscle weakness that can appear in infancy or later childhood. As the disease progresses, children may develop difficulty moving, climbing stairs, or lifting objects, while older patients often experience reduced endurance and trouble rising from a seated position. Respiratory muscles become involved over time, leading to breathing difficulties that may increase with age. The condition can also affect heart muscle, especially in the early‑onset form, resulting in an enlarged heart and reduced cardiac function.
Trial detailsLast updated 4 Oct 2026
Age18+ yearsPhasePhase IIITrial ID2024-520365-31-01Estimated enrolment180 patientsSponsorErasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

sourced from the EU Clinical Trials Register and site verification

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