Study of Ataluren in Nonambulatory Patients with DMD/BMD

• Research type

  Research Study

• Full title

  A Phase 2a Study of Ataluren (PTC124) in Nonambulatory Patients with Nonsense–Mutation-Mediated Duchenne/Becker Muscular Dystrophy

• IRAS ID

  36384

• Contact name

  Kate M D Bushby

• Sponsor organisation

  PTC Therapeutics Inc

• Eudract number

  2009-013169-24

• ISRCTN Number

  N/A

• Research summary

  Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are forms of muscular dystrophy that only affect boys. These are genetic, hereditary muscle conditions characterised by progressive muscle wasting and weakness which affect al the body muscles the heart and respiratory muscles. DMD and BMD are the result of genetic mutations (faults) in a gene encoding a muscle protein (dystrophin) that helps to "glue" muscle cells together. Mutations in this gene result in defects in the production of the muscle protein dystrophin (the protein can not be made properly), leading to gradual death of muscle cells and replacement with fatty tissue. This causes progressive muscle weakness and wasting. DMD/BMD are severely debilitating childhood conditions. Due to progressive muscle weakness, patients experience difficulties with walking and movement and can also develop heart and respiratory problems. Without treatment boys with DMD become unable to walk by about 8-12 years and develop respiratory (lung) and cardiac (heart) failure with the progression of the condition.The main purpose of this study is to provide essential long-term safety and tolerability data in nonambulatory boys with DMD/BMD.

• REC name

  North East - Newcastle & North Tyneside 1 Research Ethics Committee

• REC reference

  09/H0906/92

• Date of REC Opinion

  19 Jan 2010

• REC opinion

  Further Information Favourable Opinion