Extension study of PTC124 in patients with DMD (Muscular Dystrophy)

• Research type

  Research Study

• Full title

  A Phase 2b Extension Study of PTC124 in Subjects with Nonsense–Mutation-Mediated Duchenne and Becker Muscular Dystrophy

• IRAS ID

  19318

• Eudract number

  2008-007648-32

• ISRCTN Number

  N/A

• Clinicaltrials.gov Identifier

  NCT00847379

• Research summary

  Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are forms of muscular dystrophy that affect boys. These are genetic, hereditary muscle diseases that weaken the muscles that move the human body. Muscular dystrophy is characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissues.The muscle weakness seen in these conditions is a result of a genetic mutation for a muscle protein (dystrophin), a muscle protein that helps to?glue? muscle cells together. The mutation in the gene for this muscle protein, dystrophin, results in the muscle protein not being made properly and this means the muscle cells can not be held together properly becoming weaker and wasted over time.DMD/BMD are severely debilitating childhood diseases because of general muscle weakness and wasting as these conditions lead to problems with walking and movement. In boys with DMD the muscle weakness leads to the need to use a wheelchair with eventual respiratory (lung) and cardiac (heart) failure.There are currently no therapies to treat the underlying cause of the muscle weakness and wasting. Corticosteroids are given over long period of times to help slow down the condition progressing, however because of the serious side effects of corticosteroids, these drugs are not always used.New and more effective ways to treat DMD/BMD are clearly needed to offer benefit to boys suffering with this disabling and life-threatening disorder.The main purpose of this extension study is to follow from the original study protocol (PTC124-GD-007-DMD) in understanding the long-term safety and actions of new study drug, PTC124, on improved walking, activity, muscle function, and strength in boys with DMD/BMD.

• REC name

  East Midlands - Nottingham 2 Research Ethics Committee

• REC reference

  09/H0408/66

• Date of REC Opinion

  22 Jun 2009

• REC opinion

  Further Information Favourable Opinion