Clinical Trial: Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy

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

Official Title: A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy

Brief Summary: Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which 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. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of dystrophinopathy 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. The main goal of this Phase 3 extension study is to obtain long term safety of ataluren in boys with nonsense mutation dystrophinopathy as determined by adverse events and laboratory abnormalities. The study will also assess changes in physical function, pulmonary function and other important clinical and laboratory measures.

Detailed Summary: This Phase 3, open label safety and efficacy study will be performed at participating sites worldwide. The study will enroll ~ 220 boys with nonsense mutation dystrophinopathy who participated in a previous Phase 3 study of ataluren (Protocol # PTC124-GD-020-DMD). Patients will receive 10, 10, 20 mg/kg of ataluren TID at morning, midday, and evening for approximately 96 weeks. Study assessments will be performed at clinic visits every 12 weeks.
Sponsor: PTC Therapeutics

Current Primary Outcome: Long term safety of ataluren in boys with nonsense mutation dystrophinopathy, as determined by adverse events and laboratory abnormalities [ Time Frame: Baseline and 96 weeks ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Physical Function [ Time Frame: Baseline and 96 weeks ]
    North Star Ambulatory Assessment,Timed Function Testing, Upper Limb Function, 6 Minute Walk Test
  • Patient and/or parent-reported activities of daily living and disease symptoms [ Time Frame: Baseline and 96 weeks ]
  • Quality of Life [ Time Frame: Baseline and 96 weeks ]
  • Pulmonary function [ Time Frame: Baseline and 96 weeks ]
  • Ataluren blood levels [ Time Frame: Baseline and 96 weeks ]


Original Secondary Outcome: Same as current

Information By: PTC Therapeutics

Dates:
Date Received: March 17, 2014
Date Started: March 2014
Date Completion:
Last Updated: October 15, 2014
Last Verified: October 2014