Open-Label Study for Previously Treated PTC124 patients with nmDBMD V1
Research type
Research Study
Full title
An Open-Label Study for Previously Treated Ataluren (PTC124®) Patients with Nonsense Mutation Dystrophinopathy
IRAS ID
101661
Contact name
Katharine Bushby
Sponsor organisation
PTC Therapeutics, Inc
Eudract number
2011-004853-18
ISRCTN Number
N/A
Clinicaltrials.gov Identifier
N/A
Research summary
Duchenne muscular dystrophy (DMD)and Becker muscular dystrophy (BMD) are disabling and life-threatening genetic disorders affecting males. DMD and BMD represent a continuum of the same disease caused by mutations in the gene for dystrophin, a protein that stabilizes muscle cells. Boys with DBMD (Duchenne and Becker muscular dystrophy) develop progressive muscle weakness, causing problems with walking and movement. The muscle weakness will lead to the need to use a wheelchair, and ultimately lung and heart failure. Only long-term use of corticosteroids has slowed progression of the disease. However, because of serious side effects, these drugs are not always used, especially in patients who are wheelchair-bound. There is no current therapy for the underlying cause of DBMD. New and more effective ways to treat DBMD are needed to offer benefit to patients suffering from this hereditary disorder. Ataluren is a new drug with a potential for treating the underlying cause of DBMD. Previous studies have shown it to be effective in reducing muscle weakening, as measured by various tests of muscle function and walking ability. The purpose of this study is to assess the long-term safety and tolerability of ataluren by treating patients for up to 48 weeks. Patients will return to the clinic every 12 weeks, with regular blood sampling and tests of muscle function and walking ability.
REC name
North East - Newcastle & North Tyneside 2 Research Ethics Committee
REC reference
12/NE/0142
Date of REC Opinion
21 Aug 2012
REC opinion
Further Information Favourable Opinion