NCT01557400

Study of Ataluren for Previously Treated Participants With Nonsense Mutation Duchenne/Becker Muscular Dystrophy (nmDBMD) in Europe, Israel, Australia, and Canada

An Open-Label Study for Previously Treated Ataluren (PTC124®) Patients With Nonsense Mutation Dystrophinopathy

• Status: Completed
• Phase: Phase 3
• Study type: Interventional
• Enrollment: 94 (actual)
• Sponsor: PTC Therapeutics · Industry
• Sex: Male
• Age: —
• Healthy volunteers: Not accepted

Summary

Duchenne/Becker muscular dystrophy (DBMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation, is the cause of DBMD in approximately 10-15% of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study comprises a Phase 3, open-label study of ataluren in participants with nmDBMD who previously received ataluren at an Investigator site in a prior PTC-sponsored clinical study. A separate open-label study (PTC124-GD-016-DMD; NCT01247207) is being conducted for nmDBMD participants who previously received ataluren at an Investigator site in the United States (US).

Detailed description

All participating sites must have had at least 1 participant that received ataluren treatment in prior PTC-sponsored clinical studies in DBMD (Phase 2b double-blind, placebo-controlled study \[PTC124-GD-007-DMD; NCT00592553\] and the subsequent open-label extension study \[Study PTC124-GD-007e-DMD; NCT00847379\]). It is planned that up to \~96 participants will be enrolled. It is also planned that participants will receive ataluren 3 times per day (TID) at respective morning, midday, and evening doses of 10 milligrams/kilograms (mg/kg), 10 mg/kg, and 20 mg/kg for approximately 336 weeks. Study assessments will be performed at clinic visits during screening, on the first day of ataluren dosing, and then every 48 weeks during the ataluren treatment period, except for weight, which will be measured every 24 weeks at a primary care physician (PCP).

Conditions

• Duchenne Muscular Dystrophy
• Becker Muscular Dystrophy
• Dystrophinopathy

Interventions

Type	Name	Description
DRUG	Ataluren	Oral powder for suspension

Timeline

• Start date: 2012-05-20
• Primary completion: 2018-01-19
• Completion: 2018-01-19
• First posted: 2012-03-19
• Last updated: 2020-11-25
• Results posted: 2020-11-25

Locations

21 sites across 10 countries: Australia, Belgium, Canada, France, Germany, Israel, Italy, Spain, Sweden, United Kingdom