Phase 2B Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)
Condition: Duchenne Muscular Dystrophy; Becker Muscular Dystrophy
MeSH terms: Muscular Dystrophies; Muscular Dystrophy, Duchenne
Intervention: Ataluren
Intervention description: Ataluren oral powder for suspension will be administered as per dose and schedule specified in the arm.
Phase: Phase 2
Study type: Interventional
Primary purpose: Treatment
Intervention model: Single Group Assignment
Masking: None (Open Label)
Enrollment: 173.0
Sex: Male
Minimum age: 5 Years
Healthy volunteers: No
Keywords: Duchenne muscular dystrophy; Becker muscular dystrophy; Nonsense mutation; Premature stop codon; DMD; BMD; Ataluren; PTC124

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 2b extension trial that will evaluate the long-term
      safety of ataluren (PTC124) in boys with nonsense mutation DMD/BMD, as determined by adverse
      events and laboratory abnormalities. The study will also assess changes in walking, muscle
      function, and other important clinical and laboratory measures.
    

Eligibility criteria:

        Inclusion Criteria:

          -  Completion of blinded study drug treatment in the previous Phase 2b study
             (PTC124-GD-007-DMD).

          -  Ability to provide written informed consent (parental/guardian consent if
             applicable)/assent (if less than [<]18 years of age).

          -  In participants who are sexually active, willingness to abstain from sexual
             intercourse or employ a barrier or medical method of contraception during PTC124
             administration and the 6-week follow up period.

          -  Willingness and ability to comply with scheduled visits, drug administration plan,
             study procedures, laboratory tests, and study restrictions.

        Exclusion Criteria:

          -  Known hypersensitivity to any of the ingredients or excipients of the study drug
             (Litesse® UltraTM [refined polydextrose], polyethylene glycol 3350, Lutrol® micro F127
             [poloxamer 407], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla,
             Cab-O-Sil® M5P [colloidal silica], magnesium stearate).

          -  Ongoing participation in any other therapeutic clinical trial.

          -  Prior or ongoing medical condition (for example, concomitant illness, psychiatric
             condition, behavioral disorder, alcoholism, drug abuse), medical history, physical
             findings, ECG findings, or laboratory abnormality that, in the investigator's opinion,
             could adversely affect the safety of the subject, makes it unlikely that the course of
             treatment or follow up would be completed, or could impair the assessment of study
             results.