Phase 3 Study of Cipaglucosidase Alfa and Miglustat Treatment in Children and Teens With Infantile-Onset Pompe Disease Aged 0 to Less Than 18 Years

What this Trial Is About

Researchers are evaluating the safety, effectiveness, pharmacokinetics PK, pharmacodynamics PD, and immune response to the treatment combination of cipaglucosidase alfa and miglustat in children with infantile-onset Pompe disease IOPD. This Phase 3, open-label, multicenter study includes both children who have previously received enzyme replacement therapy ERT and those who have not. The study focuses on pediatric subjects from birth up to 18 years old who have this rare genetic condition characterized by heart muscle thickening and muscle weakness. The study has two groups one includes children aged 6 months to under 18 years who have experienced clinical decline despite prior ERT, and the other includes infants younger than 6 months who have not received ERT before. Participants will receive intravenous infusions of cipaglucosidase alfa, a biological treatment, along with oral capsules of miglustat. The study also has a long-term extension phase for participants who benefit from the primary 104-week treatment period without major safety concerns. During the study, children will be monitored for infusion-related reactions and other safety measures over 104 weeks. Evaluations include physical tests like the six-minute walk test for older children, genetic confirmation of IOPD, and assessments of heart and muscle function. Researchers will track immune responses, drug levels in the body, and overall health status. The study aims to gather detailed data on how the treatment affects disease progression and safety in this young population.

A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18