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

key information

study id #: NCT00847379

condition: Duchenne Muscular Dystrophy, Becker Muscular Dystrophy

status: terminated


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.

intervention: Ataluren (PTC124)

mechanism of action: Stop codon read through to promote dystrophin production

results: https://clinicaltrials.gov/ct2/show/results/NCT00847379

last updated: November 22, 2018

study details

start date: January 2009

estimated completion: May 2010

phase of development: Phase 2/Phase 3

size / enrollment: 173

study 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.

primary outcomes:

  • 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 outcomes:

  • Ambulation [Time Frame: 2 years]
  • Proximal muscle function [Time Frame: 2 years]
  • Heart rate [Time Frame: 2 years]
  • Cognitive ability [Time Frame: 2 years]
  • Health Related Quality of life (HRQL) [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]

inclusion criteria:

• Eligible Sexes:

• 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.

study contacts

sponsor: Genzyme, a Sanofi Company

investigators: Leone Atkinson, MD, PhD

trial center locations: United States, Australia, Belgium, Canada, France, Germany, Israel, Italy, Spain, Sweden, United Kingdom