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A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With Ataluren
study id #: NCT03796637
condition: Duchenne Muscular Dystrophy
This study is designed to generate additional data on the effect of ataluren for producing dystrophin protein in nonsense mutation nmDMD participants. This study will evaluate dystrophin levels from participants with nmDMD who currently have been receiving ataluren for greater than or equal to (>=) 9 months.
The study will have a single visit (Visit 1).
intervention: Dystrophin levels, Ataluren
mechanism of action: Gene therapy to introduce a version of dystrophin
last updated: April 19, 2020
start date: April 11, 2019
estimated completion: May 24, 2019
phase of development: Phase 2
size / enrollment: 6
- Mean Dystrophin Levels as Measured by Electrochemiluminescence (ECL) [ Time Frame: Visit 1 (Day 1) ]
ECL technology will be used to measure dystrophin protein levels. It is a highly sensitive, quantitative assay with a low background.
- Dystrophin Protein Levels as Determined by Immunohistochemistry [ Time Frame: Visit 1 (Day 1) ]
Immunohistochemistry will semi-quantitatively assess dystrophin protein levels and evaluate whether the dystrophin protein is correctly localized to the membrane of the muscle cell, consistent with a functional protein.
• Eligible Sexes: male
• Ambulatory (10 meters walk/run in less than [<] 30 seconds) and functional grade on the Brooke Upper Extremity Scale of a 1 or a 2.
• Currently being treated with ataluren 10, 10, 20 mg/kg for >=9 months, with no gap in treatment of greater than (>) 1 month, in an ongoing PTC-sponsored nmDMD clinical trial prior to study entry.
• Phenotypic evidence of duchenne muscular dystrophy (DMD) based on the onset of characteristic clinical symptoms or signs (for example, proximal muscle weakness, waddling gait, and Gowers' maneuver) by 6 years of age and an elevated serum creatine kinase (CK). Medical documentation of phenotypic evidence of DMD needs to be provided upon request by the medical monitor.
• Willing to undergo muscle biopsy.
• Known contra-indication to muscle biopsy (such as bleeding or clotting disorders).
• Exposure to another investigational drug within 2 months prior to study enrollment or ongoing participation in any non-ataluren interventional clinical trial.
• Requirement for daytime ventilator assistance or any use of invasive mechanical ventilation via tracheostomy. Note: Evening non-invasive mechanical ventilation such as use of bilevel positive airway pressure (Bi-PAP) therapy is allowed.
• Prior or ongoing medical condition (for example, concomitant illness, psychiatric condition, behavioral disorder), medical history, physical findings or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.
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