Fragile X SyndromePhase 2NCT01253629
Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome
A Phase 2 study testing AFQ056 in people with Fragile X Syndrome, run by Novartis Pharmaceuticals at 31 sites in 10 countries.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 to 45 years
- Conditions the study is for
- Fragile X Syndrome
- What is being tested?
- AFQ056
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 175 participants
- Where
- 31 sitesin 10 countries
- Study dates
- Nov 2010to Aug 2013
- Phase
- Phase 2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 45 years
- All sexes
- No healthy volunteers
- Adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
31 sites in 10 countries.
31 sites in 10 countries
United States12 sites
Novartis Investigative Site
Boston, Massachusetts, 02115
Novartis Investigative Site
Chicago, Illinois, 60612
Novartis Investigative Site
Decatur, Georgia, 30033
Novartis Investigative Site
Greenwood, South Carolina, 29646
Novartis Investigative Site
Houston, Texas, 77090
Novartis Investigative Site
Indianapolis, Indiana, 46202
Novartis Investigative Site
Media, Pennsylvania, 19063
Novartis Investigative Site
Nashville, Tennessee, 37212
Novartis Investigative Site
Omaha, Nebraska, 68198-5575
Novartis Investigative Site
Phoenix, Arizona, 85006
Novartis Investigative Site
Sacramento, California, 95817
Novartis Investigative Site
Staten Island, New York, 10314
Germany4 sites
Novartis Investigative Site
Berlin, 12200
Novartis Investigative Site
Mainz, 55131
Novartis Investigative Site
Tübingen, 72076
Novartis Investigative Site
Würzburg, 97070
Australia3 sites
Novartis Investigative Site
Caulfield, Victoria, 3161
Novartis Investigative Site
Ryde, New South Wales, 2112
Novartis Investigative Site
Waratah, New South Wales, 2298
Canada2 sites
Novartis Investigative Site
Brampton, Ontario, L6Y 1M5
Novartis Investigative Site
Sherbrooke, Quebec, J1H 5N4
France2 sites
Novartis Investigative Site
Bron, 69677
Novartis Investigative Site
Paris, 75013
Italy2 sites
Novartis Investigative Site
Genova, GE, 16147
Novartis Investigative Site
Roma, RM, 00168
Spain2 sites
Novartis Investigative Site
Málaga, Andalusia, 29009
Novartis Investigative Site
Sant Cugat del Vallès, Catalonia, 08190
Switzerland2 sites
Novartis Investigative Site
Lausanne
Novartis Investigative Site
Zurich, 8091
About this study
Official title: A Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate AFQ056 in Adult Patients With Fragile X Syndrome
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.
- Conditions
- Fragile X Syndrome
- Being tested
- AFQ056, Placebo
- Keywords
- Fragile X Syndrome, Martin-Bell Syndrome, Genetic Diseases, X-Linked
- Medical subject headings
- Fragile X Syndrome, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AFQ056Drug
AFQ056, was provided as hard gelatin capsules, 25mg and 100 mg oral dosage strengths, identical in appearance were used
PlaceboDrug
Placebo medication identical in appearance to active medication was provided
| Study group | Role | What they receive |
|---|---|---|
| 25 mg bid AFQ056 | Experimental | 1 capsule of 25 mg and 1 capsule of placebo per intake Receives: Drug: AFQ056 |
| 50 mg bid AFQ056 | Experimental | 2 capsules of 25 mg per intake Receives: Drug: AFQ056 |
| 100 mg bid AFQ056 | Experimental | 1 capsule of 100 mg and 1 capsule of placebo per intake Receives: Drug: AFQ056 |
| Placebo | Placebo comparator | 2 capsules of placebo per intake Receives: Drug: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change from baseline in behavioral symptoms of Fragile X Syndrome using the Aberrant Behavior Checklist - Community (ABC-C) Total score in Stratum I
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)
Measured: 12 weeks
Secondary outcomes (5)
Change from baseline in behavioral symptoms of Fragile X Syndrome (FXS) using the ABC-C Total score in Stratum II
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.
Measured: 12 weeks
Global improvement of symptoms in Fragile X using the Clinical Global Impression-Improvement (CGI-I) scale
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")
Measured: 12 weeks
Change from baseline in irritability, lethargy/social withdrawal, stereotypic behavior, hyperactivity, and inappropriate speech assessed by the individual subscales of the ABC-C scale
comprised of five subscales (irritability, lethargy/social withdrawal, stereotypic behavior, hyperactivity and inappropriate speech) plus the total score which ranks from 0 to 174
Measured: 12 weeks
The proportion of patients with clinical response in the ABC-C total score
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
Measured: 12 weeks
improvement of repetitive behavior as measured by changes in the RBS-R
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
Measured: Week 12
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Dec 2010 (estimated)
- Study startNov 2010
- Primary completionAug 2013
- Study completionAug 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Fragile X SyndromeStudies of the same condition, open and under way.
- More trials run by Novartis PharmaceuticalsThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 175 participants (actual)
Sponsor and investigators
- Lead sponsor
- Novartis Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Novartis Pharmaceuticals, Study director, Novartis Pharmaceuticals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01253629
- Sponsor's protocol ID
- CAFQ056A2212
- Other IDs
- 2009-013667-19, 2009
- Status last verified
- Mar 2016
- First submitted
- 2 Dec 2010
- Last updated
- 23 Dec 2020
- Results posted
- No
Publications
Berry-Kravis E, Des Portes V, Hagerman R, Jacquemont S, Charles P, Visootsak J, Brinkman M, Rerat K, Koumaras B, Zhu L, Barth GM, Jaecklin T, Apostol G, von Raison F. Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials. Sci Transl Med. 2016 Jan 13;8(321):321ra5. doi: 10.1126/scitranslmed.aab4109.
PubMed 26764156
Study at a glance
From the registry record, last updated by the sponsor on 23 Dec 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate AFQ056 in Adult Patients With Fragile X Syndrome
- ClinicalTrials.gov ID
- NCT01253629
- Acronym / sponsor ID
- CAFQ056A2212
- Conditions
- Fragile X Syndrome
- Keywords
- Fragile X Syndrome, Martin-Bell Syndrome, Genetic Diseases, X-Linked
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 175 participants (actual)
- Lead sponsor
- Novartis PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- Nov 2010
- Primary completion
- Aug 2013 (actual)
- Study completion
- Aug 2013 (actual)
- First posted
- 3 Dec 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 25 mg bid AFQ056 | Experimental | Drug: AFQ0561 capsule of 25 mg and 1 capsule of placebo per intake |
| 50 mg bid AFQ056 | Experimental | Drug: AFQ0562 capsules of 25 mg per intake |
| 100 mg bid AFQ056 | Experimental | Drug: AFQ0561 capsule of 100 mg and 1 capsule of placebo per intake |
| Placebo | Placebo comparator | Drug: Placebo2 capsules of placebo per intake |
Who may qualify
- Ages
- 18 to 45 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (1 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| AFQ056AFQ056, was provided as hard gelatin capsules, 25mg and 100 mg oral dosage strengths, identical in appearance were used | Drug | 100 mg bid AFQ056, 25 mg bid AFQ056, 50 mg bid AFQ056 |
| PlaceboPlacebo medication identical in appearance to active medication was provided | Drug | Placebo |
Primary outcome
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)
5 secondary outcomes
Change from baseline in behavioral symptoms of Fragile X Syndrome (FXS) using the ABC-C Total score in Stratum II
Time frame: 12 weeks
Global improvement of symptoms in Fragile X using the Clinical Global Impression-Improvement (CGI-I) scale
Time frame: 12 weeks
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
The proportion of patients with clinical response in the ABC-C total score
Time frame: 12 weeks
improvement of repetitive behavior as measured by changes in the RBS-R
Time frame: Week 12
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Dec 2020.
- Derived from this study: PubMed 26764156Berry-Kravis E, Des Portes V, Hagerman R, Jacquemont S, Charles P, Visootsak J, Brinkman M, Rerat K, Koumaras B, Zhu L, Barth GM, Jaecklin T, Apostol G, von Raison F. Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials. Sci Transl Med. 2016 Jan 13;8(321):321ra5. doi: 10.1126/scitranslmed.aab4109.
- Results for CAFQ056A2212 from the Novartis Clinical Trial websiteLink provided by the sponsor.
Related trials for Fragile X Syndrome
Not yet recruitingPhase 2
Inhibition of Aggressive Behavior in Participants With Fragile X Syndrome
Aggressive Behavior in Fragile X Syndome
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
Not yet recruiting
Single Session Support for Parents of Children With Neurodevelopmental Disabilities Struggling With Anxious Avoidance
Neurodevelopmental Disorders, Autism Spectrum Disorder (ASD)
RecruitingObservational study
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease
Not yet recruitingPhase 2/3
A Study to Investigate the Effects and Safety of Codabakalner for the Treatment of FXS in Male Participants and Adult Participants With ADS
Fragile X Syndrome (FXS), Autism Spectrum Disorder (ASD)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Novartis Pharmaceuticals study director
Novartis Pharmaceuticals
31 sites in 10 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing AFQ056 in people with Fragile X Syndrome, run by Novartis Pharmaceuticals at 31 sites in 10 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 23 Dec 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 31 sites in United States, Germany, Australia, Canada, France and 5 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01253629, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Dec 2020.