Clinical Trial: Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Interventional

Official Title: An Open-Label 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 clinical trial site in Europe, Israel, Australia, or Canada. The primary objective of the study is to 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 Europe, Israel, Australia, or Canada. 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 during the 96-week treatment period. 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: 240 weeks ]

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: 48 weeks ]

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:

  • Change from baseline in 6MWD as measured by the 6MWT (in ambulatory patients) [ Time Frame: 240 weeks ]
  • Change from baseline in subject and parent/caregiver-reported activities of daily living, as measured by the Egen Klassifikation (EK) scale (in nonambulatory patients) [ Time Frame: 240 weeks ]
  • Change from baseline in timed function tests (in ambulatory patients) [ Time Frame: 240 weeks ]
  • Change from baseline in pulmonary function as measured by spirometry (in nonambulatory patients) [ Time Frame: 240 weeks ]
  • Change from baseline in physical function as measured by the North Star Ambulatory Assessment (in ambulatory patients) [ Time Frame: 240 weeks ]
  • Changes in patient and/or parent/caregiver reports of disease status as measured by a standardized survey administered by site personnel [ Time Frame: 240 weeks ]


Original Secondary Outcome:

  • Change from baseline in 6MWD as measured by the 6MWT (in ambulatory patients) [ Time Frame: 48 weeks ]
  • Change from baseline in subject and parent/caregiver-reported activities of daily living, as measured by the Egen Klassifikation (EK) scale (in nonambulatory patients) [ Time Frame: 48 weeks ]
  • Change from baseline in timed function tests (in ambulatory patients) [ Time Frame: 48 weeks ]
  • Change from baseline in pulmonary function as measured by spirometry (in nonambulatory patients) [ Time Frame: 48 weeks ]
  • Change from baseline in physical function as measured by the North Star Ambulatory Assessment (in ambulatory patients) [ Time Frame: 48 weeks ]
  • Changes in patient and/or parent/caregiver reports of disease status as measured by a standardized survey administered by site personnel [ Time Frame: 48 weeks ]


Information By: PTC Therapeutics

Dates:
Date Received: March 15, 2012
Date Started: May 2012
Date Completion: November 2019
Last Updated: July 26, 2016
Last Verified: July 2016