Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy

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

Eligibility Criteria

Inclusion Criteria -

- Male sex.

- Age ≥5 years.

- Phenotypic evidence of DMD

- 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.

- Prior or 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.

Principal Investigator

Jeffrey Statland, MD

Study Contact

Kiley Higgs, ksims2@kumc.edu, 913-945-9922

Estimated Completion Date

Sunday, March 1, 2020

ClinicalTrials.gov #