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A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

key information

study id #: NCT03648827

condition: Duchenne Muscular Dystrophy

status: active, not recruiting


This study is designed to evaluate the ability of ataluren to increase dystrophin protein levels in muscle cells of participants with nmDMD. The study will evaluate the levels of dystrophin before and after 40 weeks of ataluren therapy using muscle biopsies and two validated assay methods, electrochemiluminescence (ECL) and immunohistochemistry.

intervention: Ataluren

mechanism of action: Stop codon read through to promote dystrophin production

results: https://clinicaltrials.gov/ct2/show/results/NCT03648827

last updated: September 09, 2019

study details

start date: December 21, 2018

estimated completion: March 24, 2020

phase of development: Phase 2

size / enrollment: 20

primary outcomes:

  • Percent Change From Baseline in Dystrophin Levels at Week 40, as Measured by ECL [ Time Frame: Baseline, Week 40 ]
    The change in levels of dystrophin from baseline in ambulatory nmDMD participants after treatment with ataluren for 40 weeks using quantitative assay, such as ECL.

secondary outcomes:

  • Percent Change From Baseline in Dystrophin Levels/Intensity at Week 40, as Determined by a Validated Immunohistochemistry Assay [ Time Frame: Baseline, Week 40 ]
    The change in dystrophin levels/intensity from baseline in ambulatory nmDMD participants after 40 weeks of ataluren therapy as determined by a validated immunohistochemistry assay.

inclusion criteria:
• 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.
• 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) and an elevated serum creatine kinase (CK). Medical documentation of phenotypic evidence of DMD needs to be provided upon request by the Sponsor's medical monitor.
• Documentation of the presence of a nonsense point mutation in the dystrophin gene as determined by gene sequencing. Review and approval of documentation by sponsor or designee is required prior to enrollment.
• Willing to undergo muscle biopsy.

exclusion criteria:
• Ongoing intravenous (IV) aminoglycoside or IV vancomycin therapy.
• Known contra-indication to muscle biopsy (such as bleeding or clotting disorders).
• Prior or ongoing therapy with ataluren.
• Known hypersensitivity to any of the ingredients or excipients of the study drug (for example, refined polydextrose, polyethylene glycol 3350, poloxamer 407, mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, colloidal silica, magnesium stearate).
• Exposure to another investigational drug within 2 months prior to start of study treatment, or ongoing participation in any interventional clinical trial.
• Requirement for daytime ventilator assistance or any use of invasive mechanical ventilation via tracheostomy. Evening non-invasive mechanical ventilation such as use of bilevel positive airway pressure (Bi-PAP) therapy is allowed.
• Elevated serum creatinine or cystatin C levels at screening.
• 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; PTC Therapeutics, Inc.

locations: United States