Study of enzyme therapy for children with infant-onset Pompe disease
Part of Genetic & congenital, Hormones & metabolism clinical trials.
This trial tests how well a new enzyme treatment (cipaglucosidase alfa with miglustat) works and how safe it is in children and babies with infant-onset Pompe disease. It may help by improving muscle function after earlier treatment or, for some babies, starting treatment when no prior enzyme therapy has been given.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You (or your child) are between 6 months and under 18 years, or between 0 and under 6 months for the baby group
- The Pompe disease genetic test (genotype) is documented
- You were diagnosed with hypertrophic cardiomyopathy (an enlarged heart muscle) at the time of diagnosis
- Group 1 must have taken enzyme replacement therapy (ERT) for at least 6 months before enrollment (or at least 3 months on any changed dose plan); Group 2 must not have had ERT before
- Your child has shown clinical decline despite the current rhGAA treatment dose (Group 1)
- No need for invasive ventilation (for example, a tracheostomy) and no history of severe allergy reactions to these medicines
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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