Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy

Purpose

This study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.

Conditions

  • Muscular Dystrophy, Duchenne
  • Muscular Dystrophies
  • Muscular Disorders, Atrophic
  • Muscular Diseases
  • Musculoskeletal Disease
  • Neuromuscular Diseases
  • Nervous System Diseases
  • Genetic Diseases, X-Linked
  • Genetic Diseases, Inborn

Eligibility

Eligible Ages
Over 5 Years
Eligible Genders
Male
Accepts Healthy Volunteers
No

Inclusion Criteria

  • Male sex - 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.

Exclusion Criteria

  • 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.

Study Design

Phase
Phase 3
Study Type
Interventional
Allocation
Randomized
Intervention Model
Parallel Assignment
Intervention Model Description
This study describes the randomized, double-blind, placebo-controlled, 72-week study and its 72-week open-label extension
Primary Purpose
Treatment
Masking
Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
Masking Description
A randomized, double-blind, placebo-controlled,72-week study and its 72-week open-label extension

Arm Groups

ArmDescriptionAssigned Intervention
Experimental
Ataluren 		10, 20 milligrams per kilogram (mg/kg)
  • Drug: Ataluren
    10, 20 mg/kg
    Other names:
    • PTC124
Placebo Comparator
Placebo 		10, 20 mg/kg
  • Drug: PLACEBO
    10, 20 mg/kg
    Other names:
    • Matching Placebo

More Details

Status
Completed
Sponsor
PTC Therapeutics

Study Contact

Detailed Description

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.