Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome
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The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. |
ClinicalTrials.gov Identifier: NCT01253629 |
Recruitment Status :
Completed
First Posted : December 3, 2010
Last Update Posted : December 23, 2020
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Condition or disease | Intervention/treatment | Phase |
---|---|---|
Fragile X Syndrome | Drug: AFQ056 Drug: Placebo | Phase 2 |
Study Type : | Interventional (Clinical Trial) |
Actual Enrollment : | 175 participants |
Allocation: | Randomized |
Intervention Model: | Parallel Assignment |
Masking: | Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor) |
Primary Purpose: | Treatment |
Official Title: | A Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate AFQ056 in Adult Patients With Fragile X Syndrome |
Study Start Date : | November 2010 |
Actual Primary Completion Date : | August 2013 |
Actual Study Completion Date : | August 2013 |

Arm | Intervention/treatment |
---|---|
Experimental: 25 mg bid AFQ056
1 capsule of 25 mg and 1 capsule of placebo per intake
|
Drug: AFQ056
AFQ056, was provided as hard gelatin capsules, 25mg and 100 mg oral dosage strengths, identical in appearance were used |
Experimental: 50 mg bid AFQ056
2 capsules of 25 mg per intake
|
Drug: AFQ056
AFQ056, was provided as hard gelatin capsules, 25mg and 100 mg oral dosage strengths, identical in appearance were used |
Experimental: 100 mg bid AFQ056
1 capsule of 100 mg and 1 capsule of placebo per intake
|
Drug: AFQ056
AFQ056, was provided as hard gelatin capsules, 25mg and 100 mg oral dosage strengths, identical in appearance were used |
Placebo Comparator: Placebo
2 capsules of placebo per intake
|
Drug: Placebo
Placebo medication identical in appearance to active medication was provided |
- 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 ]The ABC-C is a 58-item questionnaire that should have been completed as much as possible by the same rater. It is comprised of five subscales (irritability, lethargy/social withdrawal, stereotypic behavior, hyperactivity and inappropriate speech) plus the total score which ranks from 0 to 174 in patients who were fully methylated (FM)
- Change from baseline in behavioral symptoms of Fragile X Syndrome (FXS) using the ABC-C Total score in Stratum II [ Time Frame: 12 weeks ]The ABC-C is a 58-item questionnaire that should have been completed as much as possible by the same rater. It is comprised of five subscales (irritability, lethargy/social withdrawal, stereotypic behavior, hyperactivity and inappropriate speech). Assessing the reduction in the (ABC-C) total score after 12 weeks of treatment in FXS patients with partially methylated (PM) FMR1 gene.
- Global improvement of symptoms in Fragile X using the Clinical Global Impression-Improvement (CGI-I) scale [ Time Frame: 12 weeks ]The CGI-I score ranges from 1 to 7 (with 1 being "very much improved", 4 being "no change" to 7 being "very much worse")
- 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 ]comprised of five subscales (irritability, lethargy/social withdrawal, stereotypic behavior, hyperactivity and inappropriate speech) plus the total score which ranks from 0 to 174
- The proportion of patients with clinical response in the ABC-C total score [ Time Frame: 12 weeks ]response is defined as reduction of at least 25% from baseline in the ABC-CFX total score and a score of 1 (very much improved) or 2 (much improved) on the CGI-I scale at Week 12
- improvement of repetitive behavior as measured by changes in the RBS-R [ Time Frame: Week 12 ]The Repetitive Behavior Scale - Revised (RBS-R) includes six domains: ritualistic behavior, sameness behavior, stereotypic behavior, self-injurious behavior, compulsive behavior, and restricted interests. A negative change from baseline indicates improvement

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Ages Eligible for Study: | 18 Years to 45 Years (Adult) |
Sexes Eligible for Study: | All |
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
Other protocol-defined inclusion/exclusion criteria may apply

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01253629
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, South Carolina | |
Novartis Investigative Site | |
Greenwood, South Carolina, United States, 29646 | |
United States, Tennessee | |
Novartis Investigative Site | |
Nashville, Tennessee, United States, 37212 | |
United States, Texas | |
Novartis Investigative Site | |
Houston, Texas, United States, 77090 | |
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 | |
Denmark | |
Novartis Investigative Site | |
Glostrup, Denmark, 2600 | |
France | |
Novartis Investigative Site | |
Bron Cedex, France, 69677 | |
Novartis Investigative Site | |
Paris, France, 75013 | |
Germany | |
Novartis Investigative Site | |
Berlin, Germany, 12200 | |
Novartis Investigative Site | |
Mainz, Germany, 55131 | |
Novartis Investigative Site | |
Tübingen, Germany, 72076 | |
Novartis Investigative Site | |
Würzburg, Germany, 97070 | |
Italy | |
Novartis Investigative Site | |
Genova, GE, Italy, 16147 | |
Novartis Investigative Site | |
Roma, RM, Italy, 00168 | |
Spain | |
Novartis Investigative Site | |
Málaga, Andalucia, Spain, 29009 | |
Novartis Investigative Site | |
Sant Cugat, Cataluña, Spain, 08190 | |
Switzerland | |
Novartis Investigative Site | |
Lausanne, Switzerland | |
Novartis Investigative Site | |
Zurich, Switzerland, 8091 | |
United Kingdom | |
Novartis Investigative Site | |
Edinburgh, United Kingdom, EH10 5HF |
Study Director: | Novartis Pharmaceuticals | Novartis Pharmaceuticals |
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: | Novartis Pharmaceuticals |
ClinicalTrials.gov Identifier: | NCT01253629 |
Other Study ID Numbers: |
CAFQ056A2212 2009-013667-19 ( EudraCT Number ) |
First Posted: | December 3, 2010 Key Record Dates |
Last Update Posted: | December 23, 2020 |
Last Verified: | March 2016 |
Fragile X Syndrome Martin-Bell Syndrome Genetic Diseases X-Linked |
Fragile X Syndrome Syndrome Disease Pathologic Processes Mental Retardation, X-Linked Intellectual Disability 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 |