ASPIRE Pediatric Fabry Study
Research type
Research Study
Full title
An open-label study of the safety, pharmacokinetics, pharmacodynamics, and efficacy of 12-month treatment with Migalastat in pediatric subjects (aged 12 to < 18 years) with Fabry disease and amenable GLA variants
IRAS ID
259934
Contact name
Uma Ramaswami
Contact email
Sponsor organisation
Amicus Therapeutics, UK Ltd
Eudract number
2017-000146-21
ISRCTN Number
ISRCTN00000000
Clinicaltrials.gov Identifier
Duration of Study in the UK
1 years, 11 months, 30 days
Research summary
Research Summary:
This trial will investigate the safety, pharmacokinetics (how a drug is absorbed, distributed and eliminated from the body) and effectiveness of the investigational drug, Migalastat to treat Fabry disease in paediatric patients. Fabry disease is inherited and causes the build-up of fatty substances and can affect many parts of the body including the kidneys, heart, skin and blood vessels in the brain, which when untreated can cause irreversible injury to these body tissues.Fabry disease is very rare, and is often misdiagnosed, because of its wide range of nonspecific signs and symptoms. Fabry disease is caused by a change in genetic material (or DNA), resulting in the deficiency of the enzyme, α-galactosidase A (α-Gal A). With certain variants of the α-galactosidase A gene (GLA) migalastat can increase the level of α-Gal A and help it to get to the right part of the cell for it to work normally.
The study will recruit approximately 20 participants at approximately 20 sites around the world who are; between 12 and 17 years of age at the start of the study, weigh at least 45 kg and have amenable GLA variants. Participants must have not undergone enzyme replacement therapy (ERT) or have stopped enzyme replacement therapy at least 14 days before the screening visit. Enzyme replacement therapy is a medical treatment that replaces an enzyme which is either absent or deficient in patients.
The study will consist of 3 stages. Stage 1 will be a treatment period of approximately 1 month (4 weeks) during which the pharmacokinetics of Migalastat in paediatric participants will be assessed. Stage 2 will be a treatment period of 11 months and stage 3 a 30-day safety follow-up period. Migalastat will be taken once every other day throughout stage 1 and 2 of the study.
REC name
London - West London & GTAC Research Ethics Committee
REC reference
19/LO/0610
Date of REC Opinion
29 Aug 2019
REC opinion
Further Information Favourable Opinion