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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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03648827
Recruitment Status : Recruiting
First Posted : August 27, 2018
Last Update Posted : April 25, 2019
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
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 : March 24, 2020
Estimated Study Completion Date : March 24, 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

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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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Contact: Mary Frances Harmon (908) 912-9256
Contact: PTC Medical Information

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United States, Arizona
Phoenix Childrens Hospital Not yet recruiting
Phoenix, Arizona, United States, 85016
Contact: Nakia Croft    602-933-0641   
Principal Investigator: Saunder Bernes         
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         
University of California (UC) Davis Medical Center Not yet recruiting
Sacramento, California, United States, 95817
Contact: Omaid Sarwary    916-734-0968   
Principal Investigator: Craig McDonald         
United States, Illinois
Rush University Medical Center Not yet recruiting
Chicago, Illinois, United States, 60612
Contact: Susan Rohde    312-942-0079   
Principal Investigator: Peter Heydemann         
United States, Kansas
University of Kansas Medical Center Recruiting
Kansas City, Kansas, United States, 66160
Contact: Katie Roath         
Principal Investigator: Jeffrey Statland         
United States, Minnesota
University of Minnesota Not yet recruiting
Minneapolis, Minnesota, United States, 55455
Contact: Natalya Alassy    612-626-4690   
Principal Investigator: Peter Karachunski         
United States, New York
Columbia University College of Physicians & Surgeons Recruiting
New York, New York, United States, 10032
Contact: Ameneh Onativia    212-342-3679   
Principal Investigator: Darryl De Vivo         
United States, Texas
Texas Children's Hospital Not yet recruiting
Houston, Texas, United States, 77030
Contact: Monica Garza    832-822-1255   
Principal Investigator: Tim Lotze         
University of Texas Heath Science Center at San Antonio Recruiting
San Antonio, Texas, United States, 78229-3900
Contact: Yogeet Kaur    210-567-8222   
Principal Investigator: Ratna Bhavaraju-Sanka         
United States, Virginia
Children's Hospital of the King's Daughters Recruiting
Norfolk, Virginia, United States, 23507
Contact: Terrie Karras Conklin    757-469-9123   
Principal Investigator: Crystal Proud         
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     History of Changes
Other Study ID Numbers: PTC124-GD-045-DMD
First Posted: August 27, 2018    Key Record Dates
Last Update Posted: April 25, 2019
Last Verified: April 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