Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy

a study on Duchenne Muscular Dystrophy Muscular Dystrophies Muscular Disorders, Atrophic Myopathy Musculoskeletal Disease Neuromuscular Diseases Nervous System Diseases Genetic Diseases

Summary

Eligibility
for males ages 5 years and up (full criteria)
Location
at Oakland, California and other locations
Dates
study started
estimated completion
Principal Investigator
Jonathan Strober
Photo of Jonathan Strober
Jonathan Strober

Description

Summary

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

Official Title

A Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension

Details

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.

Keywords

Muscular Dystrophy, Duchenne Muscular Dystrophies Muscular Disorders, Atrophic Muscular Diseases Musculoskeletal Disease Neuromuscular Diseases Nervous System Diseases Genetic Diseases, X-Linked Genetic Diseases, Inborn Duchenne Muscular Dystrophy Dystrophinopathy Nonsense Mutation Premature Stop Codon Becker Muscular Dystrophy DMD/BMD PTC124 Ataluren Musculoskeletal Diseases

Eligibility

You can join if…

Open to males ages 5 years and up

  • 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.

You CAN'T join if...

  • 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.

Locations

  • University of California, San Francisco (UCSF) - Benioff Children's Hospital - Oakland accepting new patients
    Oakland California 94143 United States
  • Stanford University Medical Center accepting new patients
    Palo Alto California 94305 United States

Lead Scientist at UCSF

  • Jonathan Strober
    Professor, Neurology. Authored (or co-authored) 47 research publications.

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
PTC Therapeutics
Links
References
ID
NCT03179631
Phase
Phase 3
Study Type
Interventional
Last Updated
Contact us about this trial