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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

key information

study id #: NCT03796637

condition: Duchenne Muscular Dystrophy

status: completed


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

mechanism of action: No pharmaceutical intervention

results: https://clinicaltrials.gov/ct2/show/results/NCT03796637

last updated: November 15, 2019

study details

start date: April 11, 2019

estimated completion: May 24, 2019

size / enrollment: 6

primary outcomes:

  • 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.

secondary outcomes:

  • 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.

inclusion criteria:

• Eligible Sexes: all
• Evidence of signed and dated informed consent/assent document(s) indicating that the participant (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial.
• 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.

exclusion criteria:
• 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.

study contacts

sponsor: PTC Therapeutics

investigators: Francesco Bibbiani, MD

trial center locations: United States