Clinical Trial: Study of Ataluren (PTC124®) in Nonambulatory Patients With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy (nmDMD/BMD)

Study Status: Terminated
Recruit Status: Terminated
Study Type: Interventional

Official Title: A Phase 2a Study of Ataluren (PTC124) in Nonambulatory Patients With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy

Brief Summary: Duchenne/Becker muscular dystrophy (DMD/BMD) 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 DMD/BMD in approximately 10-15% of boys with the disease. Ataluren (PTC124) is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2a trial that will enroll boys with nonsense mutation DMD/BMD who have lost independent mobility due to the disease. This study will evaluate the safety and tolerability of ataluren (PTC124) and will also evaluate efficacy outcomes in this patient population.

Detailed Summary:

It is planned that this Phase 2a, open-label, safety and efficacy study will be performed at 5 sites in the US and 1 site in the UK.

The study will enroll ~30 boys with nonsense mutation DMD/BMD who have been nonambulatory for at least one year. Enrollment will be stratified to ensure evaluation of ~15 participants who are receiving chronic corticosteroid therapy and of ~15 participants who are not receiving chronic corticosteroid therapy. Subjects will take ataluren 3 times per day (at breakfast, lunch, and dinner) for 48 weeks (~1 year). Study assessments will be performed at clinic visits during screening, every 6 weeks for 2 visits and then every 12 weeks until the end of the study. Additional safety laboratory testing is required 4 times during the course of the study; this may be performed at the investigational site, at an accredited local laboratory or clinic, or in the subject's home using a nursing service.


Sponsor: PTC Therapeutics

Current Primary Outcome: Safety and tolerability of ataluren (PTC124) in non ambulatory subjects with nmDMD/BMD [ Time Frame: 48 weeks ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Upper extremity function [ Time Frame: 48 weeks ]
  • Upper extremity range of motion [ Time Frame: 48 weeks ]
  • Upper extremity muscle strength in subjects who are able to perform myometry [ Time Frame: 48 weeks ]
  • Hand fine-motor coordination and dexterity [ Time Frame: 48 weeks ]
  • Pulmonary function [ Time Frame: 48 weeks ]
  • Cardiac function [ Time Frame: 48 weeks ]
  • Cognitive ability [ Time Frame: 48 weeks ]
  • Health-related quality of life [ Time Frame: 48 weeks ]
  • Activities of daily living [ Time Frame: 48 weeks ]
  • Muscle fragility as determined by serum CK levels [ Time Frame: 48 weeks ]
  • Muscle dystrophin expression [ Time Frame: 48 weeks ]
  • Ataluren compliance [ Time Frame: 48 weeks ]
  • Ataluren plasma exposure [ Time Frame: 48 weeks ]


Original Secondary Outcome: Same as current

Information By: PTC Therapeutics

Dates:
Date Received: November 5, 2009
Date Started: November 2009
Date Completion:
Last Updated: May 30, 2017
Last Verified: May 2017