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Abstracts & Posters

Design of a phase 3 trial to evaluate the long-term efficacy and safety of ataluren in patients with nonsense mutation Duchenne muscular dystrophy

key information

source: Neuromuscular Disorders

year: 2017

authors: P. Riebling, E. O’Mara, X. Luo, P. Trifillis, T. Ong


Ataluren is conditionally approved by the European medicines agency to treat nonsense mutation Duchenne muscular dystrophy (nmDMD), with a specific obligation to conduct a long-term trial. This phase 3, randomized, double-blind, placebo-controlled trial with an open-label extension period is designed to evaluate the long-term efficacy and safety of ataluren in boys with nmDMD (Study 041). Patients eligible for participation will include those with phenotypic evidence of DMD, a nonsense mutation in the dystrophin gene, age >= 5 y, corticosteroid use for at least 12 months, 6-minute walk distance (6MWD) >= 150 m, and ability to perform timed function tests (TFTs) within 30 s. Patients will be randomized to receive ataluren 40 mg/kg/day (given orally in three doses: 10, 10 and 20 mg/kg) or placebo for 72 weeks. All patients will receive open-label ataluren in the 72 week extension. The primary endpoint will be slope of change from baseline to week 72 in 6MWD in a subset of patients aged >= 7 to <= 16 years with baseline 6MWD >= 300 m and time to stand from supine >= 5 s. Secondary and exploratory outcome measures will include TFTs, North Star Ambulatory Assessment, muscle strength (in patients <7 years old), upper limb function (in patients >=7 years old), and health-related quality of life, as well as magnetic resonance imaging at a subset of sites. The open-label extension period will enable comparison of outcomes in patients who received ataluren from baseline to week 144 (early-start ataluren) with those in patients who received ataluren from week 72 to 144 (delayed-start ataluren). Safety parameters will be assessed throughout the double-blind and open-label periods. This study will enroll ~250 patients overall at sites in North America, Latin America, Europe, and Asia Pacific. Patient recruitment is planned to initiate in mid-2017 and close in mid-2018.

organization: PTC Therapeutics, Inc, USA

DOI: 10.1016/j.nmd.2017.06.447

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