A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients with Nonsense Mutation Dystrophinopathy

Study ID
STU 042013-021

Cancer Related

Healthy Volunteers

Study Sites

Angelia Riley

Principal Investigator
Susan Iannaccone


This study comprises a Phase 3, multicenter, randomized, double-blind, placebo-controlled study to determine the efficacy and safety of 3 divided doses of ataluren 10, 10, 20 mg/kg in patients with nonsense mutation dystrophinopathy. 220 patients with Duchenne or Becker's Muscular Dystrophy will be enrolled globally over a period of 15 months. They will be stratified according to age ([Less Than]9 v [Greater Than]9yrs), baseline 6 minute walk test and duration of previous corticosteroid use. Subjects will be randomized 1:1, ataluren 10, 10, 20mg/kg v placebo. if a subject has a sibling in the study, they will be randomized to the same group to which their sibling has been assigned. an open-label extension study will be available to patients who have successfully completed the study in countries where ataluren is not commercially available. Subject will receive ataluren 3 times a day for 48 weeks.. Study visits will be 8 weeks apart.

Participant Eligibility

>Signed and dated ICF/Assent indicating subject and parent or legal guardian have been informed of all aspects of the trial.
>Males between the ages of 7 and 16 years.
>Documented presence of a nonsense point mutation in the dystrophin gene as determined by gene sequencing from a lab certified by either CAP or CLIA.>Documentation that a blood sample was drawn for presence of a nonsense mutation in th dystrophin gene.
>Use of systemic corticosteroids (prednisone, prednisolone or deflazacort) for a minimum of 6 months prior to the start of the study with no significant dosing change for a minimum of 3 months.
>Valid screening 6 minute walk test >150 meters without the use of assistive devices: must be <80% of predicted for age and height.
>Results of 2 6MWT must be determined as valid and Day 2 Baseline 6MWT must be within 20% of Day 1 Baseline.
>Baseline 6MWT (mean of valid Day1 & Day2) must be no more that a 20% reduction from the valid screening 6MWT
>Confirmed screening lab values within central lab ranges-confirmation should be performed for out of range values
>In sexually active subjects, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during study drug administration and the 6 week follow up period afterwards.