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Phase 2 N=6 Other

A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With Ataluren

Duchenne Muscular Dystrophy

Enrolled (actual)
6
Serious AEs
0.0%
Results posted
Apr 2022
Primary outcome: Primary: Mean Dystrophin Levels as Measured by Electrochemiluminescence (ECL) — 0.0844; 0.1002; 0.1054 nanograms (ng)/mg

Study Design & Population

Study type
Interventional
Phase
Phase 2
Interventions
Ataluren (Drug)
Age
Pediatric, Adult, Older Adult
Sex
Male
Sponsor
PTC Therapeutics
Primary completion
Jun 2019

Outcome Measures

OutcomeResultp-value
PRIMARY
Mean Dystrophin Levels as Measured by Electrochemiluminescence (ECL)
0.0844; 0.1002; 0.1054
SECONDARY
Dystrophin Protein Levels as Determined by Immunohistochemistry
0.28817; 0.26578; 0.30483

Summary

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 ≥9 months. The study will have a single visit (Visit 1).

Eligibility Criteria

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.
  • Ambulatory (10 meters walk/run in less than [ =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.
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT03796637). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.

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