A Phase 2 study of Ataluren (PTC124) as an oral treatment for nmMMA

• Research type

  Research Study

• Full title

  A Phase 2 Study of Ataluren (PTC124) as an Oral Treatment for Nonsense Mutation Methylmalonic Acidemia

• IRAS ID

  40153

• Contact name

  Andrew Morris

• Sponsor organisation

  PTC Therapeutics, Inc.

• Eudract number

  2009-016654-41

• Research summary

  Nonsense Mutation Methylmalonic Acidemia is caused by a mutation (error) in 1 of the 3 genes (MUT, MMAA and MMAB) for the enzymes (proteins with certain functions) that are responsible for the breakdown of methylmalonic acid. Methylmalonic acid is a chemical in the body that comes mainly from protein in one??s diet. When there is a mutation in 1 of these genes, the enzyme does not function properly, which leads to high levels of methylmalonic acid in the body and causes MMA. One type of mutation in these genes is called a nonsense mutation. This type of mutation is the cause of MMA in about 10 to 20% of people with the disease. A nonsense mutation causes an early stop signal. This early stop signal tells the body??s protein production machinery to stop making the enzyme before it is complete, which leads to loss of enzyme activity. This results in a buildup of methylmalonic acid in the body. This protocol (PTC124-GD-012-MMA) describes a phase 2 open-label, dose-ranging efficacy, safety, and pharmacokinetic (PK) study of ataluren in subjects with nonsense mutation MMA. It is planned that approximately 18 subjects will be enrolled over a period of 6-8 months (1Q2010 to 3Q2010) at approximately 7 investigational sites in Europe. The study will include a pre treatment screening period of 14 days with repeated laboratory tests, including plasma and urinary MMacid levels. Study subjects will then be evaluated during two cycles, each comprising planned treatment periods of 28 days on ataluren. There is an off-treatment period of 21 days (washout period) between Cycle 1 and Cycle 2 and an off-treatment period of 14 days after Cycle 2.

• REC name

  North West - Liverpool Central Research Ethics Committee

• REC reference

  10/H1002/2

• Date of REC Opinion

  1 Jun 2010

• REC opinion

  Further Information Favourable Opinion