Clinical Trial: Study of Ataluren for Previously Treated Patients With nmDBMD in the US

Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Interventional

Official Title: An Open-label, Safety Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy

Brief 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 is an open-label trial for patients with nonsense mutation dystrophinopathy who received ataluren in a prior PTC-sponsored study at a US clinical trial site. This trial will be conducted at sites in the US and will evaluate the long-term safety of ataluren, as determined by adverse events and laboratory abnormalities.

Detailed Summary: The study will enroll boys with nonsense mutation DBMD who have a history of exposure to ataluren in a prior PTC study in nmDBMD (PTC124-GD-004-DMD, PTC124-GD-004e-DMD, PTC124-GD-007-DMD, PTC124-GD-007e, and PTC124-GD-008-DMD) at a trial site in the US. Patients will receive study drug 3 times per day (at breakfast, lunch, and dinner). Study assessments will be performed at clinic visits during screening and every 12 weeks until the end of the study. Patients must also return to the clinic for a post treatment visit 6 weeks after the last dose of ataluren.
Sponsor: PTC Therapeutics

Current Primary Outcome: Safety and Tolerability [ Time Frame: Open ]

The safety profile of ataluren will be characterized by type, frequency, severity, timing, and relationship to ataluren of any adverse events or laboratory abnormalities.


Original Primary Outcome: Safety and Tolerability [ Time Frame: 9 months ]

The safety profile of ataluren will be characterized by type, frequency, severity, timing, and relationship to ataluren of any adverse events or laboratory abnormalities.


Current Secondary Outcome:

Original Secondary Outcome:

Information By: PTC Therapeutics

Dates:
Date Received: November 22, 2010
Date Started: November 2010
Date Completion: December 2018
Last Updated: May 15, 2017
Last Verified: May 2017