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

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What is this study about?

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.

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 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 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 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 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 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 Study?

  • 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 Study?

  • 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.

Where you can join this trial?

Verified and Recommended Sites

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Verified Sites

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Other Sites

Site Name City Country Status
Justus-Liebig-Universitaet Giessen Giessen Germany
SphinCS GmbH Hochheim Am Main Germany
Fondazione IRCCS San Gerardo Dei Tintori Monza Italy

Want to learn more about this study or check if you can participate? Contact us.

Trial status

Country Status Recruitment Start
Germany Germany
Not recruiting
01.10.2023
Italy Italy
Not recruiting
01.10.2023

Trial locations

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.

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 ID:
2022-502547-36-00
Protocol code:
ATB200-04
NCT ID:
NCT03911505
Trial Phase:
Therapeutic confirmatory (Phase III)

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