Skip to main content
OpenTrials
Completed

NCT Number: NCT01253629

Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Fragile X Syndrome Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System Intellectual Disability Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Sex Chromosome Disorders X-Linked Intellectual Disability

Age range

18 year–45 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

Novartis Investigative Site, Ryde, New South Wales, Australia

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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/exclusion criteria may apply

Treatment and study plan

AFQ056

Drug

AFQ056, was provided as hard gelatin capsules, 25mg and 100 mg oral dosage strengths, identical in appearance were used

Placebo

Drug

Placebo medication identical in appearance to active medication was provided

Primary outcomes

  1. Change from baseline in behavioral symptoms of Fragile X Syndrome using the Aberrant Behavior Checklist - Community (ABC-C) Total score in Stratum I

    Time frame: 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 outcomes

  1. Change from baseline in behavioral symptoms of Fragile X Syndrome (FXS) using the ABC-C Total score in Stratum II

    Time frame: 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.

  2. Global improvement of symptoms in Fragile X using the Clinical Global Impression-Improvement (CGI-I) scale

    Time frame: 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")

  3. Change from baseline in irritability, lethargy/social withdrawal, stereotypic behavior, hyperactivity, and inappropriate speech assessed by the individual subscales of the ABC-C scale

    Time frame: 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

  4. The proportion of patients with clinical response in the ABC-C total score

    Time frame: 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

  5. improvement of repetitive behavior as measured by changes in the RBS-R

    Time frame: 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

Sponsors and collaborators

Lead sponsor

Novartis Pharmaceuticals

Industry

Registry information

Official study title

A Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate AFQ056 in Adult Patients With Fragile X Syndrome

Important dates

Study start
2010
Primary completion
2013
Study completion
2013
First posted
Dec 3, 2010
Registry last updated
Dec 23, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.