Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label)

This study has been terminated.
(The study treatment failed to demonstrate efficacy in target population in two other clinical studies (CAFQ056B2214 and CAFQ056A2212).)
Information provided by (Responsible Party):
Novartis ( Novartis Pharmaceuticals )
ClinicalTrials.gov Identifier:
First received: August 31, 2011
Last updated: September 14, 2015
Last verified: September 2015
The purpose of this study is to generate long-term safety, tolerability and efficacy data for AFQ056 in eligible adolescent patients with FXS who have participated in the CAFQ056B2214 study, the PK study CAFQ056B2131, or another study of AFQ056 which included FXS patients below 18 years of age provided the patient is at least 12 years of age at the time of entry into the current study.

Condition Intervention Phase
Fragile X Syndrome
Drug: AFQ056
Phase 2
Phase 3

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

Resource links provided by NLM:

Further study details as provided by Novartis:

Primary Outcome Measures:
  • Incidence and Severity of Adverse Events (AEs) and Serious Adverse Events (SAEs) [ Time Frame: Prior to first dose in extension study, Baseline (start of study treatment in extension study) to End of trial ] [ Designated as safety issue: Yes ]

    Adverse events were summarized for the open-label treatment period, where the open-label treatment period is defined based on how AEs were collected and reported according to the manner in which participants entered the current study and which treatment (AFQ056 or placebo) they were receiving in the previous study.

    AEs which were continuing from the core study or that started after the end of core study but prior to first dose of open-label study medication in the extension study for Category 1 participants are shown under 'Prior to Ext. first dose'.

    AEs which started during the open-label treatment period are presented based on the last AFQ056 dose taken on or before the onset date of the AE (25 mg bid; 50 mg bid; 75 mg bid; or 100 mg bid). No efficacy data presented as study was terminated.

Enrollment: 119
Study Start Date: November 2011
Study Completion Date: September 2014
Primary Completion Date: September 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: AFQ056 Treatment
All patients will initiate treatment with AFQ056 at a starting dose of 25 mg b.i.d. The dose will be titrated from 25 mg b.i.d to 50 mg b.i.d., 75 mg b.i.d. and 100 mg b.i.d. at weekly intervals. Dose adjustments (up- and down-titrations) will be permitted as needed to manage any tolerability issues and to ensure that patients reach their highest tolerated dose, not to exceed 100 mg b.i.d.
Drug: AFQ056
The investigational drug, AFQ056, will be provided as hard gelatin capsules. Two different oral dosage strengths,25mg and 100 mg, identical in appearance, will be used.


Ages Eligible for Study:   12 Years to 18 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Group 1 patients:
  • Must have completed study CAFQ056B2214 or another study of AFQ056 which included FXS patients below 18 years of age within one week of enrollment into the open-label study.
  • Has a caregiver or caregivers who spend, on average, at least 6 hours per day with the patient , who is willing to and capable of supervising treatment, providing input into efficacy and safety assessments, and accompanying the patient to study visits.
  • Group 2 patients:
  • Must meet one of the following conditions:
  • Completed Study CAFQ056B2131
  • Completed Study CAFQ056B2214 or another study of AFQ056 which included FXS patients below 18 years of age but enrollment into the current study was delayed for more than a week.
  • Discontinued prematurely from Study CAFQ056B2214 or another study of AFQ056 which included FXS patients below 18 years of age due to intolerability of the dosage in the patient's assigned treatment group.
  • Has a caregiver or caregivers who spend, on average, at least 6 hours per day with the patient , who is willing to and capable of supervising treatment, providing input into efficacy and safety assessments, and accompanying the patient to study visits.

Exclusion Criteria:

  • Discontinuation from Study CAFQ056B2214 or CAFQ056B2131 or another study of AFQ056 which included FXS patients below 18 years of age due to safety reasons
  • Female patients who are sexually active at any time during the study
  • Any advanced, severe or unstable disease
  • History and/or presence of schizophrenia, bipolar disease, psychosis, confusional states and/or repeated hallucinations as per DSM-IV criteria
  • History of suicidal behavior or considered a high suicidal risk
  • 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.)
  • History of malignancy of any organ system (other than localized basal cell carcinoma of the skin), treated or untreated, within the past 5 years, regardless of whether or not there is evidence of local recurrence or metastases
  • Patients who are using (or used within 6 weeks before baseline) digoxin or warfarin
  • Using (or used within 6 weeks before baseline) concomitant medications that are potent inhibitors or inducers of CYP3A4
  • Using glutamatergic agents (riluzole, memantine, etc.) or lithium within 6 weeks of baseline

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: NCT01433354

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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, 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, Tennessee
Novartis Investigative Site
Nashville, Tennessee, United States, 37212
Australia, New South Wales
Novartis Investigative Site
Westmead, New South Wales, Australia, 2145
Australia, Victoria
Novartis Investigative Site
Parkville, Victoria, Australia, 3052
Novartis Investigative Site
Bruxelles, Belgium, 1200
Novartis Investigative Site
Leuven, Belgium, 3000
Novartis Investigative Site
Glostrup, Denmark, 2600
Novartis Investigative Site
Bron Cedex, France, 69677
Novartis Investigative Site
Mainz, Germany, 55131
Novartis Investigative Site
München, Germany, 80639
Novartis Investigative Site
Tübingen, Germany, 72076
Novartis Investigative Site
Würzburg, Germany, 97070
Novartis Investigative Site
Ramat Gan, Israel, 52621
Novartis Investigative Site
Genova, GE, Italy, 16147
Novartis Investigative Site
Padova, Italy, 35128
Novartis Investigative Site
Rotterdam, Netherlands, 3015 CE
Novartis Investigative Site
Málaga, Andalucia, Spain, 29009
Novartis Investigative Site
Sabadell, Barcelona, Spain, 08208
Novartis Investigative Site
Sant Cugat, Cataluña, Spain, 08190
Novartis Investigative Site
Spånga, Sweden, 16374
Novartis Investigative Site
Lausanne, Switzerland
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

No publications provided

Responsible Party: Novartis ( Novartis Pharmaceuticals )
ClinicalTrials.gov Identifier: NCT01433354     History of Changes
Other Study ID Numbers: CAFQ056B2278, 2011-002379-40
Study First Received: August 31, 2011
Results First Received: September 14, 2015
Last Updated: September 14, 2015
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: Federal Institute for Drugs and Medical Devices
Italy: Ethics Committee
United Kingdom: Medicines and Healthcare Products Regulatory Agency
Australia: National Health and Medical Research Council
Switzerland: Swissmedic
Sweden: Medical Products Agency
Canada: Health Canada
Israel: Ministry of Health
Netherlands: Medicines Evaluation Board (MEB)
Spain: Agencia Española de Medicamentos y Productos Sanitarios
Turkey: Ministry of Health
Belgium: Federal Agency for Medicinal Products and Health Products

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 November 30, 2015