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

This study has been completed.
Information provided by (Responsible Party):
Novartis ( Novartis Pharmaceuticals ) Identifier:
First received: May 18, 2011
Last updated: June 10, 2014
Last verified: June 2014

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.

Condition Intervention Phase
Fragile X Syndrome
Drug: AFQ056
Drug: Placebo
Phase 2

Study Type: Interventional
Study Design: Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor)
Primary Purpose: Treatment
Official Title: A Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy and Safety of AFQ056 in Adolescent Patients With Fragile X Syndrome

Resource links provided by NLM:

Further study details as provided by Novartis:

Primary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Change from baseline in behavioral symptoms of Fragile X Syndrome using the ABC-C Total score in Stratum II [ Time Frame: 12 weeks ] [ Designated as safety issue: No ]
  • Safety and tolerability as measured by changes in vital signs, ECGs, laboratory values and percentages of adverse events and serious adverse events [ Time Frame: 12 weeks ] [ Designated as safety issue: Yes ]
  • Global improvement of symptoms in Fragile X using the Clinical Global Impression-Improvement (CGI-I) scale [ Time Frame: 12 weeks ] [ Designated as safety issue: No ]
  • 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 ] [ Designated as safety issue: No ]
  • The proportion of patients with clinical response, where response is defined as a reduction of at least 25% from baseline in the ABC-C total score and a score of 1 (very much improved) or 2 (much improved) on the CGI-I scale [ Time Frame: 12 weeks ] [ Designated as safety issue: No ]

Enrollment: 139
Study Start Date: May 2011
Study Completion Date: January 2014
Primary Completion Date: January 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: 25 mg bid Drug: AFQ056
Experimental: 50 mg bid Drug: AFQ056
Experimental: 100 mg bid Drug: AFQ056
Placebo Comparator: Placebo Drug: Placebo


Ages Eligible for Study:   12 Years to 17 Years
Genders Eligible for Study:   Both
Accepts 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
  • Weigh less than 32 kg
  • Females who are sexually active

Other protocol-defined inclusion/exclusion criteria may apply

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01357239

  Show 38 Study Locations
Sponsors and Collaborators
Novartis Pharmaceuticals
Study Director: Novartis Pharmaceuticals Novartis Pharmaceuticals
  More Information

No publications provided

Responsible Party: Novartis ( Novartis Pharmaceuticals ) Identifier: NCT01357239     History of Changes
Other Study ID Numbers: CAFQ056B2214, 2010-022638-96
Study First Received: May 18, 2011
Last Updated: June 10, 2014
Health Authority: United States: Food and Drug Administration
Denmark: Danish Medicines Agency
France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
Germany: BfArM
Italy: Ethics Committee
United Kingdom: Medicines and Healthcare Products Regulatory Agency
Switzerland: Swissmedic
Australia: Department of Health and Ageing Therapeutic Goods Administration
Sweden: Medical Products Agency
Belgium: Federal Agency for Medicinal Products and Health Products
Canada: Health Canada
Israel: Ministry of Health
Netherlands: Medicines Evaluation Board (MEB)
Spain: Agencia Española de Medicamentos y Productos Sanitarios
Turkey: Ministry of Health

Keywords provided by Novartis:
Fragile X Syndrome
Martin-Bell Syndrome
Genetic Diseases
Escalante's syndrome

Additional relevant MeSH terms:
Fragile X Syndrome
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System
Intellectual Disability
Mental Retardation, X-Linked
Nervous System Diseases
Neurobehavioral Manifestations
Neurologic Manifestations
Pathologic Processes
Sex Chromosome Disorders processed this record on April 23, 2015