This study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.
Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases, Musculoskeletal Disease, Neuromuscular Diseases, Nervous System Diseases, Genetic Diseases, X-Linked, Genetic Diseases, Inborn
This study is a randomized, double-blind, placebo-controlled, 72-week study, followed by a 72-week open-label period. The purpose is to characterize the long-term effects of ataluren-mediated dystrophin restoration on disease progression. Participants will be randomized in a 1:1 ratio to ataluren or placebo. Participants will receive blinded study drug three times daily (TID) at morning, midday, and evening for 72 weeks, after which all participants will receive open-label ataluren for an additional 72 weeks (144 weeks in total). Study assessments will be performed at clinic visits every 12 weeks during the double-blind period and every 24 weeks during the open-label period. The total sample size of ~250 subjects will include ~160 subjects who meet the criteria for inclusion in the primary analysis population (age 7 to 16 years old, baseline six minute walk distance (6MWD) greater than or equal to (>=) 300 meters, supine to stand >= 5 seconds). The study will be conducted in the United States and other countries around the world.
Age ≥5 years
Phenotypic evidence of Duchenne Muscular Dystrophy
Nonsense point mutation in the dystrophin gene
Use of systemic corticosteroids (prednisone/prednisolone or deflazacort)for a minimum of 12 months immediately prior to start of study treatment, with no significant change in dosage or dosing regimen for a minimum of 3 months immediately prior to start of study treatment
6MWD ≥150 meters
Ability to perform timed function tests within 30 seconds
Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions.
Any change in prophylaxis treatment for cardiomyopathy within 1 month prior to start of study treatment.
Ongoing intravenous (IV) aminoglycoside or IV vancomycin therapy.
Prior or ongoing therapy with ataluren.
Known hypersensitivity to any of the ingredients or excipients of the study drug
Exposure to another investigational drug within 6 months prior to start of study treatment, or ongoing participation in any interventional clinical trial.
History of major surgical procedure within 12 weeks prior to start of study treatment, or expectation of major surgical procedure during the 72-week placebo-controlled treatment period.
Requirement for daytime ventilator assistance or any use of invasive mechanical ventilation via tracheostomy.
Uncontrolled clinical symptoms and signs of congestive heart failure
Elevated serum creatinine or cystatin C at screening.
September 28, 2023
Primary Contact Information
For more information on this trial, visit clinicaltrials.gov.
For more information and to contact the study team: