Long Term Safety Study in Adult Patients with Fragile X Syndrome
Research type
Research Study
Full title
An open-label study to evaluate the long-term safety, tolerability and efficacy of AFQ056 in adult patients with Fragile X Syndrome
IRAS ID
88601
Sponsor organisation
Novartis Pharma Services AG
Eudract number
2011-001952-12
Clinicaltrials.gov Identifier
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 haveemotional 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 long-term safety, tolerability and efficacy of AFQ056 in adult patients with FXS. The study will be conducted in all centres participating in the CAFQ056A2212 and CAFQ056A2204 core studies. The population will consist of approximately 200 patients who have completed the core studies or those who discontinued CAFQ056A2212 due to intolerability to their assigned dose in the core study.Patients are assigned to a single, open label treatment of 100mg AFQ056 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 9 months.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
11/SS/0043
Date of REC Opinion
26 Sep 2011
REC opinion
Favourable Opinion