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Study of Ataluren for Previously Treated Patients With nmDBMD in the US

This study is enrolling participants by invitation only.
Information provided by (Responsible Party):
PTC Therapeutics Identifier:
First received: November 22, 2010
Last updated: July 20, 2016
Last verified: February 2014
Duchenne/Becker muscular dystrophy (DBMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation, is the cause of DBMD in approximately 10-15% of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is an open-label trial for patients with nonsense mutation dystrophinopathy who received ataluren in a prior PTC-sponsored study at a US clinical trial site. This trial will be conducted at sites in the US and will evaluate the long-term safety of ataluren, as determined by adverse events and laboratory abnormalities.

Condition Intervention Phase
Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Drug: Ataluren
Phase 3

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: An Open-label, Safety Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy

Resource links provided by NLM:

Further study details as provided by PTC Therapeutics:

Primary Outcome Measures:
  • Safety and Tolerability [ Time Frame: Open ]
    The safety profile of ataluren will be characterized by type, frequency, severity, timing, and relationship to ataluren of any adverse events or laboratory abnormalities.

Estimated Enrollment: 110
Study Start Date: November 2010
Estimated Study Completion Date: August 2017
Estimated Primary Completion Date: August 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Ataluren Drug: Ataluren
Oral powder for suspension taken 3 times per day (10 mg/kg in the morning, 10 mg/kg at mid-day, and 20mg/kg in the evening).

Detailed Description:
The study will enroll boys with nonsense mutation DBMD who have a history of exposure to ataluren in a prior PTC study in nmDBMD (PTC124-GD-004-DMD, PTC124-GD-004e-DMD, PTC124-GD-007-DMD, PTC124-GD-007e, and PTC124-GD-008-DMD) at a trial site in the US. Patients will receive study drug 3 times per day (at breakfast, lunch, and dinner). Study assessments will be performed at clinic visits during screening and every 12 weeks until the end of the study. Patients must also return to the clinic for a post treatment visit 6 weeks after the last dose of ataluren.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Evidence of signed and dated informed consent/assent document(s) indicating that the subject (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial
  • History of exposure to ataluren in a prior PTC study in nmDBMD at a trial site in the US
  • Male sex
  • Confirmed screening laboratory values within the specified ranges
  • In subjects who are sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during ataluren administration and the 6-week follow up period
  • Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions

Exclusion Criteria:

  • Exposure to another investigational drug within 1 month prior to start of study treatment
  • Eligibility for another ataluren clinical trial that is actively enrolling study participants
  • Known hypersensitivity to any of the ingredients or excipients of study drug
  • Ongoing use of the following medications: coumarin based anti-coagulants, phenytoin, or tolbutamide, or systemic aminoglycoside therapy
  • Ongoing uncontrolled medical/surgical condition, ECG findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the patient or make it unlikely that follow-up would be completed
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01247207

United States, California
University of California-Davis
Sacramento, California, United States, 95817
United States, Colorado
The Children's Hospital
Aurora, Colorado, United States, 80045
United States, Florida
Child Neurology Center of NW Florida
Gulf Breeze, Florida, United States, 32561
United States, Iowa
University of Iowa Children's Hospital
Iowa City, Iowa, United States, 52242
United States, Kansas
University of Kansas Medical Center
Kansas City, Kansas, United States, 66160
United States, Massachusetts
Children's Hospital of Boston/Harvard Medical School
Boston, Massachusetts, United States, 02115
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55455
United States, Missouri
Washington University Medical School
St. Louis, Missouri, United States, 63110
United States, New York
Columbia University Medical School
New York City, New York, United States, 10032
United States, North Carolina
Duke University Medical Center
Durham, North Carolina, United States, 27710
United States, Oregon
Shriners Hospital for Children-Portland
Portland, Oregon, United States, 97239
United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
United States, Texas
Southwestern University
Dallas, Texas, United States, 75207
United States, Utah
University of Utah
Salt Lake City, Utah, United States, 84112
Sponsors and Collaborators
PTC Therapeutics
Study Director: Edward O'Mara, MD PTC Therapeutics, Inc.
  More Information

Additional Information:
Responsible Party: PTC Therapeutics Identifier: NCT01247207     History of Changes
Other Study ID Numbers: PTC124-GD-016 DMD
Study First Received: November 22, 2010
Last Updated: July 20, 2016

Keywords provided by PTC Therapeutics:
Duchenne muscular dystrophy
Becker muscular dystrophy
Nonsense mutation
Premature stop codon

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 processed this record on April 24, 2017