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A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
study id #: NCT03648827
condition: Duchenne Muscular Dystrophy
status: not yet recruitingpurpose:
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.
mechanism of action: Stop codon read through to promote dystrophin production
last updated: January 08, 2019
start date: November 30, 2018
estimated completion: February 29, 2020
phase of development: Phase 2
size / enrollment: 20
study description: This is an open-label, single-arm, Phase 2 study designed to evaluate the ability of ataluren treatment to increase dystrophin protein levels in muscle cells of patients 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.
- Percentage change in levels of dystrophin [ Time Frame: 40 weeks ]
The change in levels of dystrophin from baseline in ambulatory nmDMD subjects after treatment with ataluren for 40 weeks using quantitative assay, such as electrochemiluminescence (ECL)
- Dystrophin levels/intensity and protein localization [ Time Frame: 40 weeks ]
The change in dystrophin levels/intensity from baseline after 40 weeks of ataluren therapy as determined by a validated immunohistochemistry assay
• Evidence of signed and dated informed consent/assent document(s) indicating that the subject (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial.
• Male sex.
• Age <7 years.
• Phenotypic evidence of DMD based on the onset of characteristic clinical symptoms or signs (eg, proximal muscle weakness, waddling gait, and Gowers' maneuver) by 6 years of age and an elevated serum CK. Medical documentation of phenotypic evidence of DMD needs to be provided upon request by the PTC Therapeutics medical monitor.
• Documentation of the presence of a nonsense point mutation in the dystrophin gene as determined by gene sequencing.
• Willing to undergo muscle biopsy
• Ongoing intravenous (IV) aminoglycoside or IV vancomycin therapy.
• Known contra-indication to muscle biopsy (ie. 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 (eg, 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.
• Elevated serum creatinine or cystatin C levels at screening.
• Prior or ongoing medical condition (eg, 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 subject, 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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