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

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. Read our disclaimer for details. Identifier: NCT03648827
Recruitment Status : Active, not recruiting
First Posted : August 27, 2018
Last Update Posted : June 9, 2020
Information provided by (Responsible Party):
PTC Therapeutics

Brief Summary:
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.

Condition or disease Intervention/treatment Phase
Duchenne Muscular Dystrophy Drug: Ataluren Phase 2

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 20 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Phase 2 Clinical Pharmacology Study to Assess Dystrophin Levels in Subjects With nmDMD Before and After Treatment With Ataluren
Actual Study Start Date : December 21, 2018
Estimated Primary Completion Date : June 30, 2020
Estimated Study Completion Date : June 30, 2020

Arm Intervention/treatment
Experimental: Ataluren
Participants will receive ataluren oral suspension 10 milligrams per kilogram (mg/kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening each day for 40 weeks.
Drug: Ataluren
Ataluren will be administered as per the dose and schedule specified in the arm.
Other Name: PTC124

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

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   2 Years to 7 Years   (Child)
Sexes Eligible for Study:   Male
Gender Based Eligibility:   Yes
Accepts Healthy Volunteers:   No

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.

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): NCT03648827

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United States, Arizona
Phoenix Childrens Hospital
Phoenix, Arizona, United States, 85016
United States, California
University of California, Los Angeles (UCLA)
Los Angeles, California, United States, 90025
University of California (UC) Davis Medical Center
Sacramento, California, United States, 95817
United States, Kansas
University of Kansas Medical Center
Kansas City, Kansas, United States, 66160
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55455
United States, New York
Columbia University College of Physicians & Surgeons
New York, New York, United States, 10032
United States, Texas
Texas Children's Hospital
Houston, Texas, United States, 77030
University of Texas Heath Science Center at San Antonio
San Antonio, Texas, United States, 78229-3900
United States, Virginia
Children's Hospital of the King's Daughters
Norfolk, Virginia, United States, 23507
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: NCT03648827    
Other Study ID Numbers: PTC124-GD-045-DMD
2019-001767-67 ( EudraCT Number )
First Posted: August 27, 2018    Key Record Dates
Last Update Posted: June 9, 2020
Last Verified: June 2020

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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