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Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)

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: NCT00847379
Recruitment Status : Terminated
First Posted : February 19, 2009
Last Update Posted : June 1, 2017
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
PTC Therapeutics

Brief Summary:
Duchenne/Becker muscular dystrophy (DMD/BMD) 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 DMD/BMD in approximately 10-15% of boys with the disease. Ataluren (PTC124) is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2b extension trial that will evaluate the long-term safety of ataluren (PTC124) in boys with nonsense mutation DMD/BMD, as determined by adverse events and laboratory abnormalities. The study will also assess changes in walking, muscle function, and other important clinical and laboratory measures.

Condition or disease Intervention/treatment Phase
Duchenne Muscular Dystrophy Becker Muscular Dystrophy Drug: Ataluren (PTC124) Phase 2 Phase 3

Detailed Description:
This Phase 2b, open-label, safety and efficacy study is anticipated to be performed at 37 sites in 11 countries. The study will enroll up to 174 boys with nonsense mutation DMD/BMD who participated in a previous Phase 2b study of ataluren (PTC124) (PTC124-GD-007-DMD, NCT00592553). Subjects will receive study drug 3 times per day (at breakfast, lunch, and dinner) for approximately 96 weeks (approximately 2 years). Study assessments will be performed at clinic visits during screening, every 6 weeks for 2 visits and then every 12 weeks until the end of the study. Additional safety laboratory testing, which may be performed at the investigational site or at an accredited local laboratory or clinic, is required 3 times during the course of the study.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 173 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Phase 2b Extension Study of Ataluren (PTC124) in Subjects With Nonsense-Mutation-Mediated Duchenne and Becker Muscular Dystrophy
Actual Study Start Date : January 2009
Actual Primary Completion Date : May 2010
Actual Study Completion Date : May 2010

Arm Intervention/treatment
Experimental: Ataluren (PTC124)
Ataluren (PTC124)
Drug: Ataluren (PTC124)
Oral powder for suspension taken 3 times per day (20 mg/kg with breakfast, 20 mg/kg with lunch, and 40 mg/kg with dinner) for up to 96 weeks.

Primary Outcome Measures :
  1. Long-term safety of PTC124 in boys with nonsense-mutation mediated DMD/BMD, as determined by adverse events and laboratory abnormalities [ Time Frame: 2 years ]

Secondary Outcome Measures :
  1. Ambulation [ Time Frame: 2 years ]
  2. Proximal muscle function [ Time Frame: 2 years ]
  3. Heart rate [ Time Frame: 2 years ]
  4. Cognitive ability [ Time Frame: 2 years ]
  5. Health Related Quality of life (HRQL) [ Time Frame: 2 years ]
  6. Activities of daily living [ Time Frame: 2 years ]
  7. Muscle fragility [ Time Frame: 2 years ]
  8. Compliance with ataluren (PTC124) treatment [ Time Frame: 2 years ]
  9. Ataluren (PTC124) pharmacokinetics [ Time Frame: 2 years ]

Information from the National Library of Medicine

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

Inclusion Criteria:

  • Completion of blinded study drug treatment in the previous Phase 2b study (PTC124-GD-007-DMD).
  • Ability to provide written informed consent (parental/guardian consent if applicable)/assent (if <18 years of age).
  • In subjects who are sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during PTC124 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:

  • Known hypersensitivity to any of the ingredients or excipients of the study drug (Litesse® UltraTM [refined polydextrose], polyethylene glycol 3350, Lutrol® micro F127 [poloxamer 407], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, Cab-O-Sil® M5P [colloidal silica], magnesium stearate).
  • Ongoing participation in any other therapeutic clinical trial.
  • Prior or ongoing medical condition (eg, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, ECG findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the subject, 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): NCT00847379

  Hide Study Locations
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United States, California
University of California - Davis
Sacramento, California, United States, 95817
United States, Colorado
Department of Rehabilitation, 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, Division of Child Neurology
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
Boston, Massachusetts, United States, 02115
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55414
United States, Missouri
Washington University Medical School
Saint Louis, Missouri, United States, 63110
United States, New York
Columbia University
New York, New York, United States, 10032
United States, North Carolina
Duke University Medical Center
Durham, North Carolina, United States, 27710
United States, Ohio
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
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
Australia, Victoria
The Royal Children's Hospital
Parkville, Victoria, Australia, 3052
The Children's Hospital at Westmead
Westmead, Australia, 2145
UZ Leuven
Leuven, Belgium
Canada, Ontario
Alberta Children's Hospital
London, Ontario, Canada
Children's Hospital of Western Ontario
London, Ontario, Canada
British Colombia Children's Hopsital
Vancouver, Canada
Hopital d'Enfants CHU Timone
Marseille cedex 20, France, 13385
Laboratoire d'Exploration Fonctionnelles
Nantes cedex 1, France
Groupe Hospitalier Pitie-Salpetriere, Institut de Myologie
Paris, France
University of Essen - Clinic for Children
Essen, Germany
University Hospital
Freiburg, Germany
Hadassah University Hopspital
Jerusalem, Israel
Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena
Milano, Italy, 20122
Ospedale Pediatrico Bambino Gesu
Roma, Italy, 00165
U.O. Complessa di Neuropsichiatria Infantile-Policlinico A. Gemelli-Universita Cattolica
Roma, Italy, 00168
Hospital Sant Joan de Deu
Barcelona, Spain
Hospital Universitario La Fe
Valencia, Spain
Queen Silvia Children's Hospital
Goteborg, Sweden, S-416 85
Astrid Lindgren Pediatric Hospital
Stockholm, Sweden
United Kingdom
UCL Instititute of Child Health, Dubowitz
London, United Kingdom
University of Newcastle
Newcastle Upon Tyne, United Kingdom
Robert Jones & Agnes Hunt Orthopaedic Hospital
Oswestry, United Kingdom
Sponsors and Collaborators
PTC Therapeutics
Genzyme, a Sanofi Company
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Study Director: Leone Atkinson, M.D., Ph.D. PTC Therapeutics

Additional Information:
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Responsible Party: PTC Therapeutics Identifier: NCT00847379     History of Changes
Other Study ID Numbers: PTC124-GD-007e-DMD
First Posted: February 19, 2009    Key Record Dates
Last Update Posted: June 1, 2017
Last Verified: May 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by PTC Therapeutics:
Duchenne muscular dystrophy
Becker muscular dystrophy
Nonsense mutation
Premature stop codon
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