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Trial record 44 of 105 for:    Recruiting, Not yet recruiting, Available Studies | "Muscular Dystrophies"

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

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ClinicalTrials.gov Identifier: NCT03648827
Recruitment Status : Not yet recruiting
First Posted : August 27, 2018
Last Update Posted : November 29, 2018
Sponsor:
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

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
Estimated Study Start Date : November 30, 2018
Estimated Primary Completion Date : February 29, 2020
Estimated Study Completion Date : February 29, 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.



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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
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.
  • 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 ClinicalTrials.gov identifier (NCT number): NCT03648827


Contacts
Contact: Mary Frances Harmon 908-912-9256 mharmon@ptcbio.com
Contact: PTC Medical Information medinfo@ptcbio.com

Locations
United States, Arizona
Phoenix Childrens Hospital Not yet recruiting
Phoenix, Arizona, United States, 85016
Contact: Nakia Croft    602-933-0641    ncroft@phoenixchildrens.com   
Principal Investigator: Saunder Bernes         
United States, California
University of California, Los Angeles (UCLA) Not yet recruiting
Los Angeles, California, United States, 90025
Contact: Emilie Douine    310-267-2416    edouine@mednet.ucla.edu   
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    omsarwary@ucdavis.edu   
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    susan_rohde@rush.edu   
Principal Investigator: Peter Heydemann         
United States, Kansas
University of Kansas Medical Center Not yet 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    burla019@umn.edu   
Principal Investigator: Peter Karachunski         
United States, New York
Columbia University College of Physicians & Surgeons Not yet recruiting
New York, New York, United States, 10032
Contact: Ameneh Onativia    212-342-3679    am2959@cumc.columbia.edu   
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    mxgarza9@texaschildrens.org   
Principal Investigator: Tim Lotze         
University of Texas Heath Science Center at San Antonio Not yet recruiting
San Antonio, Texas, United States, 78229-3900
Contact: Yogeet Kaur    210-567-8222    kaury@uthscsa.edu   
Principal Investigator: Ratna Bhavaraju-Sanka         
United States, Virginia
Children's Hospital of the King's Daughters Not yet recruiting
Norfolk, Virginia, United States, 23507
Contact: Terrie Karras Conklin    757-469-9123    terrie.conklin@chkd.org   
Principal Investigator: Crystal Proud         
Sponsors and Collaborators
PTC Therapeutics
Investigators
Study Director: Francesco Bibbiani, MD PTC Therapeutics, Inc.

Responsible Party: PTC Therapeutics
ClinicalTrials.gov Identifier: NCT03648827     History of Changes
Other Study ID Numbers: PTC124-GD-045-DMD
First Posted: August 27, 2018    Key Record Dates
Last Update Posted: November 29, 2018
Last Verified: November 2018

Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked