Phase 2 Study of Ataluren (PTC124) as Treatment for MPS I
Research type
Research Study
Full title
A Phase 2 Study of Ataluren (PTC124) as Treatment for Nonsense Mutation Mucopolysaccharidosis Type I
IRAS ID
163035
Contact name
Vanessa Davidson
Contact email
Sponsor organisation
PTC Therapeutics Inc.
Eudract number
2014-002596-28
Duration of Study in the UK
1 years, 0 months, 21 days
Research summary
Mucopolysaccharidosis type I (MPS I) is a disease caused by lack of a critical enzyme (chemical) in the body which is required for breaking down large sugar molecules called glycosaminoglycans (GAGs). Without this enzyme, GAGs build up in the body causing organ and tissue damage. It has been estimated that the severe form of MPS I, which is the most common, occurs in 1 in 100,000 births and is characterized by signs such as delayed mental development, impaired vision and hearing, and bone abnormalities.
There is currently no cure for MPS I. Current treatments include bone marrow transplant to provide patients with new cells that produce the missing enzyme, and enzyme replacement therapy (ERT) where the missing enzyme is injected in to the patient to ease symptoms. Both procedures target many of the clinical features of MPS I, however there are serious risks involved with bone marrow transplant, and ERT does not have the ability to treat brain and bone abnormalities associated with the disease.
This study is being carried out to see if ataluren, a powder substance developed by PTC Therapeutics, can delay progression of MPS I when taken orally, by reducing the amount of GAGs that build up in the body, and provide information on the safety of ataluren in patients with MPS I.
There is no placebo for this open-label, proof-of-concept trial. All participants will receive 3 different dose levels of ataluren for a period of 42 days, with each treatment cycle separated by a washout period of 28 days. The order of the dose levels will be randomly assigned for each participant.
It is anticipated that up to 18 patients =2 years old will be enrolled in the UK and Germany.REC name
Yorkshire & The Humber - Leeds West Research Ethics Committee
REC reference
14/YH/1304
Date of REC Opinion
28 Jan 2015
REC opinion
Further Information Favourable Opinion