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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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03796637
Recruitment Status : Recruiting
First Posted : January 8, 2019
Last Update Posted : September 12, 2019
Information provided by (Responsible Party):
PTC Therapeutics

Brief 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 greater than or equal to (>=) 9 months.

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

Condition or disease Intervention/treatment
Duchenne Muscular Dystrophy Other: Dystrophin levels

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Study Type : Observational
Estimated Enrollment : 6 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Phase 2, Non-Interventional, Clinical Study to Assess Dystrophin Levels in Subjects With Nonsense Mutation Duchenne Muscular Dystrophy Who Have Been Treated With Ataluren for ≥9 Months
Actual Study Start Date : April 11, 2019
Estimated Primary Completion Date : September 30, 2019
Estimated Study Completion Date : September 30, 2019

Group/Cohort Intervention/treatment
nmDMD Participants
Participants who have been receiving ataluren, dosed daily 10 milligrams per kilogram (mg/kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening, for >=9 months from ongoing PTC-sponsored nmDMD clinical trials.
Other: Dystrophin levels
Dystrophin levels of participants who have previously received at least 9 months of treatment with ataluren.

Primary Outcome Measures :
  1. 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 Outcome Measures :
  1. 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.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   Male
Gender Based Eligibility:   Yes
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Participants with nmDMD who currently have been receiving ataluren for >=9 months.

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 [<] 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03796637

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Contact: Senior VP Corporate Relations 1-866-562-4620
Contact: Medical Information 1-866-562-4620

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United States, California
University of California, Los Angeles (UCLA) Recruiting
Los Angeles, California, United States, 90025
Contact: Emilie Douine    310-267-2416   
Principal Investigator: Stanley Nelson         
Sponsors and Collaborators
PTC Therapeutics
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Study Director: Francesco Bibbiani, MD PTC Therapeutics, Inc.

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Responsible Party: PTC Therapeutics Identifier: NCT03796637     History of Changes
Other Study ID Numbers: PTC124-GD-046-DMD
First Posted: January 8, 2019    Key Record Dates
Last Update Posted: September 12, 2019
Last Verified: August 2019

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked