A possible treatment for adults with Fragile X Syndrome

• Research type

  Research Study

• Full title

  A randomized, double-blind, placebo-controlled, parallel group study to evaluate AFQ056 in adult patients with Fragile X Syndrome

• IRAS ID

  60586

• Contact name

  Andrew Stanfield

• Sponsor organisation

  Novartis Pharma AG

• Eudract number

  2009-013667-19

• Research summary

  Fragile X Syndrome (FXS) is the most common cause of inherited mental retardation with a worldwide prevalence of approximately 1 in 4000 males and 1 in 8000 females. In addition to mental retardation, individuals with FXS have emotional, behavioural and learning difficulties.Most genes either make a protein or regulate proteins made by other genes. A change (or 'mutation' as it is called) in a gene on the X chromosome causes fragile X syndrome. This is because the gene (known as the FMR1 gene) is responsible for producing a protein that is important in brain development. This protein is called FMRP, and individuals with fragile X syndrome have a deficiency of this protein. Some individuals who have an incomplete mutation may only have a relatively small deficiency of this protein and be mildly affected, whereas others who have a complete mutation (so called fully methylated mutation) have a large deficiency and will be more severely affected.There is no specific treatment for FXS, and the medications currently used to treat the FXS symptoms are compromised by their limited efficacy and the risk of undesirable side effects.AFQ056 (the study drug) is a possible new treatment for FXS. The purpose of the study is to assess three different dosage strengths of AFQ056 versus placebo (dummy drug) in reducing aberrant behaviour scores over 12 weeks of treatment in patients with FXS.

• REC name

  Scotland A REC

• REC reference

  10/MRE00/88

• Date of REC Opinion

  1 Feb 2011

• REC opinion

  Further Information Favourable Opinion