Migalastat Pediatric Long Term Extension Study
Research type
Research Study
Full title
A Long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants
IRAS ID
280058
Contact name
Uma Ramaswami
Contact email
Sponsor organisation
Amicus Therapeutics, UK Ltd
Eudract number
2019-000222-21
ISRCTN Number
ISRCTN00000000
Clinicaltrials.gov Identifier
Duration of Study in the UK
2 years, 0 months, 0 days
Research summary
Fabry disease is an inherited genetic disease whereby there is change in DNA i.e. genetic material which results in the deficiency of an enzyme called alpha-galactosidase A (alpha-Gal A). This enzyme is important in helping the body break down and remove certain types of fatty substances present in human cells. Due to the low levels of this enzyme in patients with Fabry disease, there is a build-up of fatty substances in several tissues such as the kidneys, heart, skin, and blood vessels. The study drug, migalastat binds to and stabilises specific variants of alpha-Gal A. This allows them to be transported to the right part of the cell where migalastat will then break off and allow alpha-Gal A to become an active enzyme. The resulting active alpha-Gal A functions normally and helps to breakdown fatty substances.
Migalastat has not been studied in paediatric patients under 16 years of age. Although adolescent participants with Fabry disease aged 16 to 17 years old were included in Phase 3 studies, the number of adolescent participants included in those studies was limited. Thus, the sponsor is conducting this study to test the safety in paediatric participants (aged 12 to 17 years) with Fabry disease.
Participants who are eligible and able to receive reimbursed product at the completion of Study AT1001-020 or during this study will be switched to commercial product (Galafold®). Participants who are unable to receive reimbursed product may continue treatment in the study, or via another program.
REC name
London - City & East Research Ethics Committee
REC reference
20/LO/0903
Date of REC Opinion
25 Aug 2020
REC opinion
Further Information Favourable Opinion