Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X Syndrome

This study has been completed.
Information provided by (Responsible Party):
Novartis ( Novartis Pharmaceuticals )
ClinicalTrials.gov Identifier:
First received: May 3, 2011
Last updated: February 12, 2015
Last verified: February 2015
The purpose of this study is to generate long-term safety, tolerability and efficacy data for AFQ056 in eligible adult patients with FXS who have participated in the CAFQ056A2212 core study and patients who have participated in the previous proof-of-concept study CAFQ056A2204.

Condition Intervention Phase
Fragile X Syndrome
Drug: AFQ056
Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: An Open-label Study to Evaluate the Long-term Safety, Tolerability and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome

Resource links provided by NLM:

Further study details as provided by Novartis:

Primary Outcome Measures:
  • Evaluation of the safety and tolerability of AFQ056 in adult patients with FXS as assessed by: Incidence and severity of adverse events and serious adverse events and change in vital signs, laboratory assessments, and ECGs. [ Time Frame: 24 months ] [ Designated as safety issue: Yes ]

Secondary Outcome Measures:
  • Change from baseline in the Aberrant Behavior Checklist - Community edition (ABC-C) total score and subscale scores [ Time Frame: 24 months ] [ Designated as safety issue: No ]
  • Rating of global improvement of symptoms in Fragile X patients using the Clinical Global Impression - Improvement (CGI-I) scale [ Time Frame: 24 months ] [ Designated as safety issue: No ]
  • Change from baseline in the Repetitive Behavior Symptom - Research version (RBS) total score and subscale score [ Time Frame: 24 months ] [ Designated as safety issue: No ]

Enrollment: 148
Study Start Date: August 2011
Study Completion Date: September 2014
Primary Completion Date: September 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: AFQ056 100 mg (Bid) Drug: AFQ056


Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Must have been enrolled in Studies CAFQ056A2204 or CAFQ056A2212
  • Has a caregiver or caregivers who spend(s), on average, at least 6 hours per day with the patient, who is/are willing and capable of supervising treatment, providing input into efficacy and safety assessments, and accompanying the patient to study visits.

Exclusion Criteria:

  • Any advanced, severe or unstable disease
  • History of severe self-injurious behavior
  • History of uncontrolled seizure disorder or resistant to therapy within the past 2 years (Patients who are clinically stable under anti-convulsant therapy for the past 2 years are not excluded)
  • History of clinically significant allergies requiring hospitalization or non-inhaled corticosteroid therapy (asthma, anaphylaxis, etc.)
  • Any treatment regimen, including psychotropic and/or anticonvulsant therapy that has not been stable for ≥ 6 weeks prior to randomization
  • Using (or used within 6 weeks before randomization) concomitant medications that are potent inhibitors or inducers of CYP3A4
  • Using glutamatergic agents (riluzole, memantine, etc.) or lithium within 6 weeks of randomization
  • Planning to initiate or change pharmacologic or non-pharmacologic interventions during the course of the study

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 ClinicalTrials.gov identifier: NCT01348087

  Hide Study Locations
United States, Arizona
Novartis Investigative Site
Phoenix, Arizona, United States, 85006
United States, California
Novartis Investigative Site
Sacramento, California, United States, 95817
United States, Georgia
Novartis Investigative Site
Decatur, Georgia, United States, 30033
United States, Illinois
Novartis Investigative Site
Chicago, Illinois, United States, 60612
United States, Indiana
Novartis Investigative Site
Indianapolis, Indiana, United States, 46202
United States, Massachusetts
Novartis Investigative Site
Boston, Massachusetts, United States, 02115
United States, Nebraska
Novartis Investigative Site
Omaha, Nebraska, United States, 68198-5575
United States, New York
Novartis Investigative Site
Staten Island, New York, United States, 10314
United States, Pennsylvania
Novartis Investigative Site
Media, Pennsylvania, United States, 19063
United States, Tennessee
Novartis Investigative Site
Nashville, Tennessee, United States, 37212
Australia, New South Wales
Novartis Investigative Site
Ryde, New South Wales, Australia, 2112
Novartis Investigative Site
Waratah, New South Wales, Australia, 2298
Australia, Victoria
Novartis Investigative Site
Caulfield, Victoria, Australia, 3161
Canada, Ontario
Novartis Investigative Site
Brampton, Ontario, Canada, L6Y 1M5
Canada, Quebec
Novartis Investigative Site
Sherbrooke, Quebec, Canada, J1H 5N4
Novartis Investigative Site
Glostrup, Denmark, 2600
Novartis Investigative Site
Bron Cedex, France, 69677
Novartis Investigative Site
Paris, France, 75013
Novartis Investigative Site
Berlin, Germany, 12203
Novartis Investigative Site
Mainz, Germany, 55131
Novartis Investigative Site
Tübingen, Germany, 72076
Novartis Investigative Site
Würzburg, Germany, 97070
Novartis Investigative Site
Genova, GE, Italy, 16147
Novartis Investigative Site
Málaga, Andalucia, Spain, 29010
Novartis Investigative Site
Sant Cugat, Catalunya, Spain, 08190
Novartis Investigative Site
Lausanne, Switzerland, 1011
Novartis Investigative Site
Zurich, Switzerland, 8091
United Kingdom
Novartis Investigative Site
Edinburgh, United Kingdom, EH10 5HF
Sponsors and Collaborators
Novartis Pharmaceuticals
Study Director: Novartis Pharmaceuticals Novartis Pharmaceuticals
  More Information

Responsible Party: Novartis ( Novartis Pharmaceuticals )
ClinicalTrials.gov Identifier: NCT01348087     History of Changes
Other Study ID Numbers: CAFQ056B2279  2011-001952-12 
Study First Received: May 3, 2011
Last Updated: February 12, 2015
Health Authority: United States: Food and Drug Administration
Canada: Health Canada
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
Australia: National Health and Medical Research Council
Switzerland: Swissmedic

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

ClinicalTrials.gov processed this record on May 23, 2016