Long Term Safety Study in Adolescents with Fragile X

• Research type

  Research Study

• Full title

  An open-label study to evaluate the long term safety and tolerability in AFQ056 in adolescent patients with Fragile X Syndrome

• IRAS ID

  100528

• Contact name

  Andrew Stanfield

• Sponsor organisation

  Novartis Pharma Services AG

• Eudract number

  2011-002379-40

• Research summary

  Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability with a worldwide prevalence of approximately 1 in 4000 males and 1 in 8000 females. In addition to intellectual disability, individuals with FXS have emotional and behavioural difficulties. A change (or 'mutation') in a gene on the X chromosome causes FXS. The gene (known as the FMR1 gene) is responsible for producing a protein (called FRMP) that is important in brain development. The amount of FMRP is lower in individuals with FXS. There is no specific treatment for FXS, and the medications currently used to treat 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 the longterm safety, tolerability and efficacy of AFQ056 in adolescent patients with FXS. The study will be conducted in all centres participating in the CAFQ056B2214 and CAFQ056B2131 core studies. The population will consist of approximately 180 patients who have completed the core studies or those who discontinued CAFQ056B2214 due to intolerability to their assigned dose in the core study. Patients are assigned to a single, open label treatment of 25mg AFQ056 b.i.d.and will be titrated up to 100mg B.I.D. Patients who cannot tolerate 100mg b.i.d. may continue in the study at a dose of 75mg, 50mg or 25mg b.i.d. The total treatment period will be 24 months or until the drug becomes available on the market(whichever occurs later). At study visits participants will have their vital signs checked, physical examinations, ECGs, laboratory assessments,checks for prior and concomitant medications and adverse events. Care givers to the participants will complete questionnaires on the participants quality of life and behavioural symptoms.

• REC name

  Scotland A REC

• REC reference

  12/SS/0053

• Date of REC Opinion

  24 Apr 2012

• REC opinion

  Further Information Favourable Opinion