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

This study has been terminated.
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
PTC Therapeutics Identifier:
First received: February 16, 2009
Last updated: August 28, 2013
Last verified: August 2013
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 Intervention Phase
Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Drug: Ataluren (PTC124)
Phase 2
Phase 3

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: 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

Resource links provided by NLM:

Further study details as provided by PTC Therapeutics:

Primary Outcome Measures:
  • 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:
  • Ambulation [ Time Frame: 2 years ]
  • Proximal muscle function [ Time Frame: 2 years ]
  • Heart rate [ Time Frame: 2 years ]
  • Cognitive ability [ Time Frame: 2 years ]
  • Quality of life [ Time Frame: 2 years ]
  • Activities of daily living [ Time Frame: 2 years ]
  • Muscle fragility [ Time Frame: 2 years ]
  • Compliance with ataluren (PTC124) treatment [ Time Frame: 2 years ]
  • Ataluren (PTC124) pharmacokinetics [ Time Frame: 2 years ]

Enrollment: 173
Study Start Date: January 2009
Study Completion Date: May 2010
Primary Completion Date: May 2010 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
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.

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.

Ages Eligible for Study:   Child, Adult, Senior
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.
  Contacts and Locations
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Please refer to this study by its identifier: NCT00847379

  Show 37 Study Locations
Sponsors and Collaborators
PTC Therapeutics
Genzyme, a Sanofi Company
Study Director: Leone Atkinson, M.D., Ph.D. PTC Therapeutics
  More Information

Additional Information:
Responsible Party: PTC Therapeutics Identifier: NCT00847379     History of Changes
Other Study ID Numbers: PTC124-GD-007e-DMD
Study First Received: February 16, 2009
Last Updated: August 28, 2013

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