Phase 2a Extension Study of Ataluren (PTC124) in Duchenne Muscular Dystrophy (DMD)
Condition: Duchenne Muscular Dystrophy
MeSH terms: Muscular Dystrophies; Muscular Dystrophy, Duchenne
Intervention: Ataluren
Intervention description: Ataluren will be provided as a vanilla-flavored powder to be mixed with milk. Dosing based on participant body weight
Phase: Phase 2
Study type: Interventional
Primary purpose: Treatment
Intervention model: Single Group Assignment
Masking: None (Open Label)
Enrollment: 36.0
Sex: Male
Healthy volunteers: No
Keywords: Duchenne muscular dystrophy; Nonsense mutation; Premature stop codon; DMD; PTC124; Ataluren

Summary:

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

Eligibility criteria:

        Inclusion Criteria:

          -  Completion of ataluren treatment in the previous Phase 2a study (Protocol
             PTC124-GD-004-DMD).

          -  Ability to provide written informed consent (parental/guardian consent if
             applicable)/assent (if <18 years of age).

          -  Confirmed screening laboratory values within the central laboratory ranges.

          -  In participants who are sexually active, willingness to abstain from sexual
             intercourse or employ a barrier or medical method of contraception during ataluren
             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:

          -  Treatment with systemic aminoglycoside antibiotics within 3 months prior to start of
             study treatment.

          -  Treatment with warfarin within 1 month prior to start of study treatment.

          -  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], and magnesium stearate).

          -  Exposure to another investigational drug within 2 months prior to start of study
             treatment.

          -  History of major surgical procedure within 1 month prior to start of study treatment.

          -  Ongoing immunosuppressive therapy (other than corticosteroids).

          -  Ongoing participation in any other clinical trial (except for sub-studies specifically
             approved by PTC Therapeutics).

          -  Clinically significant symptoms and signs of congestive heart failure (CHF) (American
             College of Cardiology/American Heart Association Stage C or Stage D).

          -  Prior or ongoing medical condition (for example, concomitant illness, psychiatric
             condition, behavioral disorder, alcoholism, drug abuse), medical history, physical
             findings, electrocardiogram findings, or laboratory abnormality that, in the
             Investigator's opinion, could adversely affect the safety of the participant, makes it
             unlikely that the course of treatment or follow-up would be completed, or could impair
             the assessment of study results.