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

This study is currently recruiting participants.
Verified November 2013 by Novartis
Information provided by (Responsible Party):
Novartis ( Novartis Pharmaceuticals ) Identifier:
First received: May 18, 2011
Last updated: November 14, 2013
Last verified: November 2013

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 ]

Estimated Enrollment: 139
Study Start Date: May 2011
Estimated Study Completion Date: January 2014
Estimated 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
Please refer to this study by its identifier: NCT01357239

Contact: Novartis Pharmaceuticals 1-888-669-6682
Contact: Novartis Pharmaceuticals

  Show 52 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: November 14, 2013
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
Mental Retardation, X-Linked
Mental Retardation
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Sex Chromosome Disorders
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System processed this record on April 17, 2014