Queen Square Centre for Neuromuscular Diseases


A trial of in nonsense mutation dystrophinopathy patients previously treated with Ataluren (PTC124â)

Sponsor PTC therapeutics
CI Professor Kate Bushby
sites Newcastle and London GOSH

Newcastle: becky.davis@ncl.ac.uk

London: c.uzowuru@ucl.ac.uk

More information

Trial information

This is a phase III, open-label study of ataluren in nmDBMD (nonsense mutation Duchenne and Becker Muscular Dystrophies) patients. To be eligible patients would have taken part in a previous PTC-sponsored trial of ataluren at an investigator site.

Subjects will take ataluren for approximately 96 weeks, 3 times per day:

  • morning, 10 mg/kg
  • midday, 10 mg/kg
  • and evening 20 mg/kg

Study assessments will be performed at clinic visits:

  • during screening
  • on the first day of ataluren dosing
  • and then every 12 weeks during the ataluren treatment period

Primary Objective: to assess the long-term safety and tolerability of the stated doses.

Secondary objectives include the following:

  • To determine the effect of ataluren on ambulation and other aspects of physical function in ambulatory patients*
  • To assess the effect of ataluren on daily activities, upper limb function, and breathing in non-ambulatory patients**
  • To assess patient and/or parent/caregiver reports of changes in disease status:
  • Retrospectively during after participation in previous studies
  • prospectively during the current study.

* able to run/walk 10 meters in less than 30 seconds

** unable to run/walk 10 meters in less than 30 seconds