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Study on the Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Children with Late-onset Pompe Disease

Verified siteInvestigationalNo 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 Late-onset Pompe disease, a rare genetic disorder that affects muscle function. The study will evaluate the safety and effectiveness of two treatments: Cipaglucosidase Alfa and Miglustat. Cipaglucosidase Alfa is a protein-based treatment given through an injection, while Miglustat is a chemical-based treatment taken as a capsule by mouth. The purpose of the study is to assess how well these treatments work together in children and teenagers with this condition.

Participants in the study will receive both treatments over a period of up to 52 weeks. During this time, researchers will monitor the participants to see how their bodies respond to the treatments. This includes checking for any side effects and measuring changes in muscle strength and breathing ability. The study aims to provide valuable information on how these treatments can help manage the symptoms of Late-onset Pompe disease in young patients.

The study is open-label, meaning that both the participants and the researchers know which treatments are being administered. This approach helps in closely observing the effects of the treatments. The information gathered from this study will contribute to understanding the potential benefits and risks of using Cipaglucosidase Alfa and Miglustat together for managing Late-onset Pompe disease in children and teenagers.

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, the participant is assigned to one of two cohorts based on age and previous treatment experience.

    Cohort 1 includes participants aged 12 to less than 18 years, while Cohort 2 includes participants aged 0 months to less than 12 years.

  2. Step 2

    Medication administration

    Participants receive two medications: cipaglucosidase alfa and miglustat.

    Cipaglucosidase alfa is administered intravenously as a lyophilized powder prepared for injection.

    Miglustat is taken orally in the form of hard gelatin capsules.

  3. Step 3

    Treatment schedule

    The treatment involves regular administration of the medications over a specified period.

    The exact dosage and frequency are determined by the study protocol and the participant's specific needs.

  4. Step 4

    Monitoring and assessments

    Participants undergo regular monitoring to assess the safety and effectiveness of the treatment.

    This includes tracking any side effects, changes in antibody levels, and clinical laboratory test results.

  5. Step 5

    Evaluation of physical function

    Participants' physical function is evaluated through various tests, such as the 6-Minute Walk Test and assessments of muscle strength and respiratory function.

    These evaluations help determine any changes in the participant's ability to move and perform daily activities.

  6. Step 6

    Study duration

    The study is expected to continue until June 2026.

    Participants are monitored throughout the study to ensure their safety and to gather data on the long-term effects of the treatment.

Who can join the trial?

9 criteria

  • For Cohort 1: Boys or girls who have either never received enzyme replacement therapy (ERT) or have been on ERT for at least 6 months before joining the study. They must be between 12 and less than 18 years old.
  • For Cohort 1: The participant must weigh 115 kg or less.
  • For Cohort 1: The participant must have a sitting forced vital capacity (FVC) of at least 30% of what is expected for healthy adolescents. FVC is a measure of lung function.
  • For Cohort 1: The participant must be able to walk at least 75 meters in a 6-Minute Walk Test, which is a test to measure walking ability.
  • For Cohort 2: Boys or girls who have either never received ERT or have been on ERT for at least 6 months before joining the study. They must be between 0 months and less than 12 years old.
  • For Cohort 2: Participants aged 5 to less than 12 years must be able to walk at least 40 meters in a 6-Minute Walk Test.
  • For both Cohorts 1 and 2: The participant's parent or legal representative must agree to provide written consent for the study, and the participant must agree if required by local rules.
  • For both Cohorts 1 and 2: The participant must have a confirmed diagnosis of Late-onset Pompe disease (LOPD) through specific tests, such as checking for a deficiency of the GAA enzyme or genetic testing.
  • For both Cohorts 1 and 2: If the participant can have children and is sexually active, they must agree to use a highly effective form of birth control during the study and for 90 days after the last dose of the study medication.

Who cannot join the trial?

4 criteria

  • Individuals who do not have a diagnosis of Late-onset Pompe disease cannot participate. Late-onset Pompe disease is a genetic disorder that affects muscle function.
  • Participants must be within the specified age range for the study. If you are outside this age range, you cannot join.
  • Both males and females are eligible, but if you do not identify as either, you may not be able to participate.
  • If you belong to a group considered vulnerable, such as children or those unable to give consent, you may not be eligible.
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Investigated drugs

  • Cipaglucosidase Alfa

    is an enzyme replacement therapy used in the treatment of Pompe disease. It works by providing the enzyme that is deficient or absent in individuals with this condition, helping to break down glycogen that accumulates in the body.

  • Miglustat

    is a medication that is used alongside enzyme replacement therapy to enhance its effectiveness. It helps to reduce the accumulation of glycogen in the body by inhibiting the production of certain substances that contribute to the disease.

What is already known about the treatment

  • Cipaglucosidase Alfa

    This medication is administered intravenously and is currently being studied for its safety and effectiveness in treating late-onset Pompe disease, particularly in pediatric patients. It is in the clinical trial phase, with ongoing research to establish its role in medical practice. Cipaglucosidase Alfa is designed to replace the deficient enzyme in patients with Pompe disease, helping to break down glycogen accumulation in cells. It is classified as an enzyme replacement therapy.

  • Miglustat

    This medication is taken orally and is being evaluated in combination with Cipaglucosidase Alfa for the treatment of late-onset Pompe disease in children. It is under clinical investigation to determine its safety and potential benefits. Miglustat works by inhibiting the synthesis of certain complex sugars, which may help reduce the buildup of glycogen in cells. It is classified as a substrate reduction therapy.

Investigated diseases

Late-onset Pompe disease – This is a genetic disorder characterized by the buildup of glycogen in the body's cells due to a deficiency of the enzyme acid alpha-glucosidase. It primarily affects the muscles, leading to progressive muscle weakness, particularly in the legs and trunk. Over time, individuals may experience difficulty walking, climbing stairs, and performing other physical activities. Respiratory muscles can also be affected, potentially leading to breathing difficulties. The disease typically manifests in adulthood, with symptoms gradually worsening over time. It is considered a rare disease, affecting a small number of individuals worldwide.
Trial detailsLast updated 7 Oct 2026
Age0-17PhasePhase IIITrial ID2022-502547-36-00Protocol codeATB200-04Estimated enrolment25 patientsSponsorAmicus Therapeutics Inc.

sourced from the EU Clinical Trials Register and site verification

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