Fragile X Syndrome
Conditions
Keywords
Fragile X Syndrome, Martin-Bell Syndrome, Genetic Diseases, X-Linked
Brief summary
This Phase IIb study is designed to assess whether 3 doses of AFQ056 are safe and effective in treating the behavioral symptoms of Fragile X Syndrome.
Interventions
DRUGAFQ056
AFQ056, was provided as hard gelatin capsules, 25mg and 100 mg oral dosage strengths, identical in appearance were used
DRUGPlacebo
Placebo medication identical in appearance to active medication was provided
Sponsors
Novartis Pharmaceuticals
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
QUADRUPLE (Subject, Caregiver, Investigator, Outcomes Assessor)
Eligibility
Sex/Gender
ALL
Age
18 Years to 45 Years
Healthy volunteers
No
Inclusion criteria
* Patients with Fragile X Syndrome, who are at least moderately ill based on a Clinical Global Impression Severity score of at least 4 and have qualifying scores on the ABC-C and IQ test at Visit 1
Exclusion criteria
* Advanced, severe or unstable disease that may interfere with the study outcome evaluations * Cancer within the past 5 years, other than localized skin cancer * Current treatment with more than two psychoactive medications, excluding anti-epileptics * History of severe self-injurious behavior Other protocol-defined inclusion/
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change from baseline in behavioral symptoms of Fragile X Syndrome using the Aberrant Behavior Checklist - Community (ABC-C) Total score in Stratum I | 12 weeks | The ABC-C is a 58-item questionnaire that should have been completed as much as possible by the same rater. It is comprised of five subscales (irritability, lethargy/social withdrawal, stereotypic behavior, hyperactivity and inappropriate speech) plus the total score which ranks from 0 to 174 in patients who were fully methylated (FM) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change from baseline in behavioral symptoms of Fragile X Syndrome (FXS) using the ABC-C Total score in Stratum II | 12 weeks | The ABC-C is a 58-item questionnaire that should have been completed as much as possible by the same rater. It is comprised of five subscales (irritability, lethargy/social withdrawal, stereotypic behavior, hyperactivity and inappropriate speech). Assessing the reduction in the (ABC-C) total score after 12 weeks of treatment in FXS patients with partially methylated (PM) FMR1 gene. |
| Global improvement of symptoms in Fragile X using the Clinical Global Impression-Improvement (CGI-I) scale | 12 weeks | The CGI-I score ranges from 1 to 7 (with 1 being very much improved, 4 being no change to 7 being very much worse) |
| Change from baseline in irritability, lethargy/social withdrawal, stereotypic behavior, hyperactivity, and inappropriate speech assessed by the individual subscales of the ABC-C scale | 12 weeks | comprised of five subscales (irritability, lethargy/social withdrawal, stereotypic behavior, hyperactivity and inappropriate speech) plus the total score which ranks from 0 to 174 |
| The proportion of patients with clinical response in the ABC-C total score | 12 weeks | response is defined as reduction of at least 25% from baseline in the ABC-CFX total score and a score of 1 (very much improved) or 2 (much improved) on the CGI-I scale at Week 12 |
| improvement of repetitive behavior as measured by changes in the RBS-R | Week 12 | The Repetitive Behavior Scale - Revised (RBS-R) includes six domains: ritualistic behavior, sameness behavior, stereotypic behavior, self-injurious behavior, compulsive behavior, and restricted interests. A negative change from baseline indicates improvement |
Countries
Australia, Canada, Denmark, France, Germany, Italy, Spain, Switzerland, United Kingdom, United States
Outcome results
None listed