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

  Show 28 Study Locations
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