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Study on Reducing Treatment Frequency of Alglucosidase Alfa for Elderly Patients with Late-Onset Pompe Disease

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

This clinical trial is focused on studying a condition known as Pompe disease, specifically in elderly patients who have a late-onset form of the disease. Pompe disease is a rare genetic disorder that affects muscle strength and function. The treatment being investigated in this study is called alglucosidase alfa, which is currently administered as an infusion every two weeks. The study aims to explore whether reducing the frequency of this treatment to once every four weeks is safe and does not lead to worsening of the disease.

The purpose of the study is to determine if patients with late-onset Pompe disease can maintain their muscle strength, muscle function, and lung function with less frequent treatment. Participants will receive alglucosidase alfa at a dose of 20 mg per kilogram of body weight every four weeks. The study will monitor the patients over a period of nine months to ensure that the less frequent treatment does not cause any negative effects on their health.

Throughout the study, various aspects of the patients' health will be assessed, including their muscle strength, ability to perform daily activities, and lung function. The study will also keep track of any side effects or reactions to the treatment. If the results show that the less frequent treatment is safe and effective, there may be potential to further reduce or even discontinue the treatment in the future. This study is an important step in understanding how to best manage Pompe disease in elderly patients.

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

    Initial assessment

    Upon joining the study, an initial assessment is conducted to confirm eligibility. This includes verifying a confirmed diagnosis of late-onset Pompe disease (LOPD) and ensuring the patient is 50 years or older.

    The patient must have been receiving alglucosidase alfa at a dose of 20 mg/kg every 2 weeks for at least 4 years and must be in a stable clinical condition. The ability to walk at least 150 meters within 6 minutes and specific lung function criteria are also assessed.

  2. Step 2

    Treatment adjustment

    The treatment frequency is adjusted from once every 2 weeks to once every 4 weeks. The medication used is Myozyme (alglucosidase alfa) administered as a solution for infusion.

    The dosage remains at 20 mg/kg, and the patient continues this adjusted regimen for a period of 9 months.

  3. Step 3

    Monitoring and evaluation

    Throughout the study, regular monitoring of muscle strength, muscle function, and lung function is conducted. This includes manual muscle testing, hand-held dynamometry, and the 6-minute walk test.

    Lung function is assessed through forced vital capacity measurements in both sitting and supine positions, as well as maximum inspiratory and expiratory pressures.

  4. Step 4

    Patient-reported outcomes

    Patient-reported outcome measures are collected using the Rasch-built Pompe-specific activity scale and the SF-36 quality of life questionnaire.

    These assessments help evaluate the impact of the treatment frequency change on daily living activities and overall quality of life.

  5. Step 5

    Safety assessments

    Safety is monitored by checking vital signs such as heart rate, blood pressure, and respiratory rate. Weight is also recorded.

    Any treatment-emergent adverse events, including infusion-associated reactions, are documented and assessed.

  6. Step 6

    Conclusion of study

    The study aims to determine if the less frequent treatment regimen is safe and does not lead to increased disease progression.

    If successful, further investigation may explore the possibility of discontinuing treatment.

Who can join the trial?

7 criteria

  • The patient must have a confirmed diagnosis of **LOPD** (Late-Onset Pompe Disease). This means there is an enzyme deficiency in any tissue or two confirmed disease-causing changes in the **GAA gene**.
  • The patient must be **50 years or older**.
  • The patient must currently be receiving treatment with **alglucosidase alfa** at a standard dose of 20 mg/kg every two weeks for at least **4 years**.
  • The patient must have had a relatively **stable health condition** over the past year.
  • The patient must be able to **walk at least 150 meters** within 6 minutes. This is known as the **6-Minute Walk Test (6MWT)**.
  • The patient must have a **forced vital capacity (FVC)**, which is a measure of lung function, greater than 55% of the expected value when sitting and greater than 45% when lying down.
  • The patient must be **willing and able** to follow the study procedures.

Who cannot join the trial?

4 criteria

  • Patients who need to use a wheelchair cannot participate.
  • Patients who require help with breathing, known as respiratory support, are not eligible.
  • Patients who are at immediate risk of losing the ability to perform important daily activities cannot join the study.
  • Patients who are not in a stable condition are excluded from the trial.
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Investigated drugs

Alglucosidase alfa is a medication used in this clinical trial to treat patients with late-onset Pompe disease. The study is exploring whether reducing the frequency of this treatment from once every 2 weeks to once every 4 weeks affects the progression of muscle strength, muscle function, and lung function in elderly patients. The goal is to determine if this less frequent treatment schedule is safe and effective for maintaining the patients' current health status without increasing the progression of the disease.

What is already known about the treatment

Alglucosidase alfa – This medication is administered intravenously and is used to treat Pompe disease, a rare genetic disorder. It is currently being studied in clinical trials to determine if reducing the frequency of administration from every two weeks to every four weeks is effective and safe for elderly patients with late-onset Pompe disease. Alglucosidase alfa works by replacing the enzyme acid alpha-glucosidase, which is deficient in individuals with Pompe disease, helping to break down glycogen in the body. It is classified as an enzyme replacement therapy and is an established treatment in medical literature for managing symptoms of Pompe disease.

Investigated diseases

Pompe Disease – Pompe disease is a rare genetic disorder caused by the buildup of glycogen in the body's cells. This buildup 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 function, leading to progressive muscle weakness and respiratory issues. Symptoms can vary widely, ranging from severe forms in infants to milder forms in adults. Over time, individuals may experience difficulties with mobility and breathing. The progression of the disease can impact daily activities, but the rate and severity of progression can differ among individuals.
Trial detailsLast updated 7 Oct 2026
Age18+ yearsPhasePhase IIITrial ID2024-514255-15-01Estimated enrolment10 patientsSponsorErasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

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