Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome

NCT01253629 | Completed Phase 2

• 2 other identifiers: CAFQ056A22122009-013667-19
• Study Type: interventional
• Target: 175
• Locations: 10 countries
• Sites: 31

Brief 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.

Conditions

Fragile X Syndrome

Keywords

Fragile X Syndrome; Martin-Bell Syndrome; Genetic Diseases; X-Linked

Outcome Measures

Primary Outcomes (1)

• 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)

  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

  12 weeks

• Global improvement of symptoms in Fragile X using the Clinical Global Impression-Improvement (CGI-I) scale

  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

  12 weeks

• The proportion of patients with clinical response in the ABC-C total score

  12 weeks

• improvement of repetitive behavior as measured by changes in the RBS-R

  Week 12

Study Arms (4)

25 mg bid AFQ056

EXPERIMENTAL

1 capsule of 25 mg and 1 capsule of placebo per intake

Drug: AFQ056

50 mg bid AFQ056

EXPERIMENTAL

2 capsules of 25 mg per intake

Drug: AFQ056

100 mg bid AFQ056

EXPERIMENTAL

1 capsule of 100 mg and 1 capsule of placebo per intake

Drug: AFQ056

Placebo

PLACEBO COMPARATOR

2 capsules of placebo per intake

Drug: Placebo

Interventions

AFQ056 DRUG

AFQ056, was provided as hard gelatin capsules, 25mg and 100 mg oral dosage strengths, identical in appearance were used

100 mg bid AFQ056; 25 mg bid AFQ056; 50 mg bid AFQ056

Placebo DRUG

Placebo medication identical in appearance to active medication was provided

Placebo

Eligibility Criteria

• Age: 18 Years - 45 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Novartis Pharmaceuticals: lead

Study Sites (31)

Novartis Investigative Site

Phoenix, Arizona, 85006, United States

Location

Novartis Investigative Site

Sacramento, California, 95817, United States

Location

Novartis Investigative Site

Decatur, Georgia, 30033, United States

Location

Novartis Investigative Site

Chicago, Illinois, 60612, United States

Location

Novartis Investigative Site

Indianapolis, Indiana, 46202, United States

Location

Novartis Investigative Site

Boston, Massachusetts, 02115, United States

Location

Novartis Investigative Site

Omaha, Nebraska, 68198-5575, United States

Location

Novartis Investigative Site

Staten Island, New York, 10314, United States

Location

Novartis Investigative Site

Media, Pennsylvania, 19063, United States

Location

Novartis Investigative Site

Greenwood, South Carolina, 29646, United States

Location

Novartis Investigative Site

Nashville, Tennessee, 37212, United States

Location

Novartis Investigative Site

Houston, Texas, 77090, United States

Location

Novartis Investigative Site

Ryde, New South Wales, 2112, Australia

Location

Novartis Investigative Site

Waratah, New South Wales, 2298, Australia

Location

Novartis Investigative Site

Caulfield, Victoria, 3161, Australia

Location

Novartis Investigative Site

Brampton, Ontario, L6Y 1M5, Canada

Location

Novartis Investigative Site

Sherbrooke, Quebec, J1H 5N4, Canada

Location

Novartis Investigative Site

Glostrup Municipality, 2600, Denmark

Location

Novartis Investigative Site

Bron, 69677, France

Location

Novartis Investigative Site

Paris, 75013, France

Location

Novartis Investigative Site

Berlin, 12200, Germany

Location

Novartis Investigative Site

Mainz, 55131, Germany

Location

Novartis Investigative Site

Tübingen, 72076, Germany

Location

Novartis Investigative Site

Würzburg, 97070, Germany

Location

Novartis Investigative Site

Genova, GE, 16147, Italy

Location

Novartis Investigative Site

Roma, RM, 00168, Italy

Location

Novartis Investigative Site

Málaga, Andalusia, 29009, Spain

Location

Novartis Investigative Site

Sant Cugat del Vallès, Catalonia, 08190, Spain

Location

Novartis Investigative Site

Lausanne, Switzerland

Location

Novartis Investigative Site

Zurich, 8091, Switzerland

Location

Novartis Investigative Site

Edinburgh, EH10 5HF, United Kingdom

Location

Related Publications (1)

• 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.

  PMID: 26764156 DERIVED

Related Links

• Results for CAFQ056A2212 from the Novartis Clinical Trial website

MeSH Terms

Conditions

Fragile X Syndrome; Genetic Diseases, Inborn

Interventions

mavoglurant

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, X-Linked; Heredodegenerative Disorders, Nervous System

Study Officials

• Novartis Pharmaceuticals

  Novartis Pharmaceuticals

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 2, 2010
• First Posted: December 3, 2010
• Study Start: November 1, 2010
• Primary Completion: August 1, 2013
• Study Completion: August 1, 2013
• Last Updated: December 23, 2020

Record last verified: 2016-03

Locations

DE (4); IT (2); US (12); AU (3); CH (2); GB (1); CA (2); FR (2); ES (2); DK (1)