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Study on the Safety and Effects of Cipaglucosidase Alfa and Miglustat for Children with Infantile-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 a rare genetic disorder called Infantile-onset Pompe Disease, which affects children from birth to under 18 years old. The study will explore the effects of two treatments: cipaglucosidase alfa and miglustat. Cipaglucosidase alfa is a protein-based treatment given through an intravenous infusion, which means it is delivered directly into the bloodstream through a vein. Miglustat is a chemical-based treatment taken orally in the form of a hard gelatin capsule.

The purpose of the study is to evaluate the safety and tolerability of these treatments when used together in children who have previously received enzyme replacement therapy (ERT) and those who have not. The study will involve monitoring the participants over a period of time to observe any reactions to the treatments and to assess their overall health. Participants will receive the treatments for up to 104 weeks, which is about two years.

Throughout the study, researchers will pay close attention to any infusion-associated reactions, which are responses that might occur when the treatment is administered. They will also monitor for any other side effects, changes in vital signs, and results from heart tests like echocardiograms and ECGs. The study aims to provide valuable information on how these treatments can help manage Infantile-onset Pompe Disease in children.

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 assessment

    Upon joining the study, an initial assessment is conducted to confirm eligibility. This includes reviewing medical history and performing necessary tests to ensure the patient meets the criteria for participation.

  2. Step 2

    Treatment initiation

    The treatment involves the administration of two medications: cipaglucosidase alfa and miglustat.

    Cipaglucosidase alfa is provided as a lyophilized powder, which is prepared for injection and administered through an intravenous infusion.

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

  3. Step 3

    Treatment schedule

    The treatment is administered over a period of 104 weeks. The specific dosage and frequency of administration are determined by the study protocol and the patient's individual needs.

  4. Step 4

    Monitoring and evaluation

    Throughout the study, regular monitoring is conducted to evaluate the safety and effectiveness of the treatment. This includes checking for any infusion-associated reactions and other potential side effects.

    Clinical tests such as laboratory tests, vital signs, ECGs, and echocardiograms are performed to track changes in the patient's health status.

  5. Step 5

    Long-term extension

    If the patient benefits from the treatment during the initial 104-week period without significant safety concerns, they may be eligible for a long-term extension of the study.

Who can join the trial?

11 criteria

  • For Cohort 1: The child must be a boy or girl aged between 6 months and less than 18 years on the first day of the study.
  • For Cohort 2: The child must be a boy or girl aged between 0 and less than 6 months on the first day of the study.
  • The child's parent or legal guardian must be willing and able to give written permission for the child to join the study and allow the use of the child's health information for research.
  • The child must have a specific genetic condition involving two copies of a gene related to the disease, confirmed before starting the study medication.
  • The child must have had a heart condition called **hypertrophic cardiomyopathy** at the time of diagnosis. This means the heart muscle was thicker than normal, based on specific measurements for their age.
  • For Cohort 2: The child must not have received any previous **enzyme replacement therapy (ERT)**, which is a treatment for the disease.
  • For Cohort 1: The child must have received ERT for at least 6 months before joining the study. If the ERT dose was changed, the child must have been on the new dose for at least 3 months before joining.
  • For Cohort 1: The child must have shown a decline in their condition based on specific criteria while on their current ERT dose and schedule.
  • For Cohort 1: If the child is old enough to have children and is sexually active, they must agree to use a reliable method of birth control during the study and for at least 90 days after the last dose of the study medication.
  • For Cohort 1: Children aged 12 to less than 18 years must be able to walk at least 75 meters in a 6-minute walk test. Children aged 5 to less than 12 years must be able to walk at least 40 meters in the same test. Children aged 18 months to less than 5 years must be able to walk and be expected to walk at least 40 meters when they turn 5 years old.
  • For the Long-term Extension: The child must have benefited from the study treatment during the initial 104-week period, with no major safety issues, according to the study doctor.

Who cannot join the trial?

10 criteria

  • Patients who have a known allergy or severe reaction to any of the study medications.
  • Patients who have participated in another clinical trial within the last 30 days.
  • Patients with any other serious medical condition that might interfere with the study.
  • Patients who are unable to comply with the study procedures or follow-up visits.
  • Patients who have received any investigational drug within the last 30 days.
  • Patients with a history of drug or alcohol abuse.
  • Patients who are pregnant or breastfeeding.
  • Patients with a history of certain heart conditions.
  • Patients with uncontrolled high blood pressure.
  • Patients with active infections that require treatment.
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Investigated drugs

  • Cipaglucosidase Alfa

    is a medication used in this trial to help treat children with infantile-onset Pompe disease. This condition is a rare genetic disorder that affects the muscles and heart. Cipaglucosidase Alfa works by replacing a missing enzyme in the body, which helps break down certain substances that can build up and cause damage to the muscles and other tissues.

  • Miglustat

    is another medication used in combination with Cipaglucosidase Alfa in this trial. It helps enhance the effectiveness of the enzyme replacement therapy by reducing the production of the substances that accumulate in the body due to Pompe disease. This combination aims to improve the overall treatment outcomes for children with this condition.

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 infantile-onset Pompe disease in children. It is used as part of enzyme replacement therapy to help manage this rare genetic disorder. Cipaglucosidase Alfa works by breaking down glycogen, a complex sugar, into glucose, which the body can use for energy. It is classified as an enzyme replacement therapy.

  • Miglustat

    This medication is taken orally and is being evaluated for its role in combination with Cipaglucosidase Alfa for treating infantile-onset Pompe disease in pediatric patients. Miglustat is used to enhance the effectiveness of enzyme replacement therapy by inhibiting the production of certain complex sugars that accumulate in the body. It belongs to a class of drugs known as glucosylceramide synthase inhibitors.

Investigated diseases

Infantile-onset Pompe Disease – This is a rare genetic disorder that affects the body's ability to break down glycogen, a stored form of sugar used for energy. It is caused by a deficiency of the enzyme acid alpha-glucosidase, leading to the accumulation of glycogen in the body's cells. This accumulation primarily affects the heart and skeletal muscles, causing muscle weakness and heart problems. Symptoms typically appear within the first few months of life and may include poor muscle tone, an enlarged heart, and difficulty breathing. As the disease progresses, it can lead to severe muscle weakness and respiratory issues. Early intervention and management are crucial to address the symptoms and improve quality of life.
Trial detailsLast updated 7 Oct 2026
Age0-17PhasePhase IIITrial ID2022-501095-25-01Protocol codeATB200-08Estimated enrolment37 patientsSponsorAmicus Therapeutics Inc.

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