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 Sex
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 		Participants will receive ataluren oral suspension 10 milligrams (mg)/kilogram (kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening each day for 72 weeks in DB treatment period and for an additional 72 weeks in open-label treatment period.
  • Drug: Ataluren
    10, 20 mg/kg
    Other names:
    • PTC124
Placebo Comparator
Placebo 		Participants will receive placebo matched to ataluren oral suspension for 72 weeks in DB treatment period. After completion of DB treatment period, participants will receive ataluren oral suspension 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening each day for 72 weeks in open-label treatment period.
  • 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.