The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS)

The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors

The purpose of this study is to investigate the Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors

Study Overview

• Status: Recruiting
• Conditions: Fragile X Syndrome; Williams Syndrome; Velocardiofacial Syndrome
• Intervention / Treatment: Drug: methylphenidate, fluoxetin, risperidone

• Study Type: Interventional
• Enrollment (Estimated): 400
• Phase: Phase 4

Contacts and Locations

• Study Contact: Name: Doron Gothelf, MD; Phone Number: 972-03-5302663; Email: gothelf@post.tau.ac.il

Study Locations

• Israel
  • Petach-Tikva, Israel, 49202
    • Recruiting
    • Schneider Children's Mediac Center of Israel
    • Contact: Doron Gothelf, MD; Phone Number: 972-03-5302663

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• chromosomal deletion proven by FISH examination

Exclusion Criteria:

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: 1	Drug: methylphenidate, fluoxetin, risperidone; first cognitive evaluation without methylphenidate,second cognitive evaluation with methylphenidate

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Measure that are used: psychological measures, molecular tests, responsiveness to medical treatments	2 years

Collaborators and Investigators

• Sponsor: The Chaim Sheba Medical Center

Study record dates

Study Major Dates

• Study Start: May 1, 2001
• Primary Completion (Estimated): August 1, 2024
• Study Completion (Estimated): August 1, 2024

Study Registration Dates

• First Submitted: October 7, 2008
• First Submitted That Met QC Criteria: October 7, 2008
• First Posted (Estimated): October 8, 2008

Study Record Updates

• Last Update Posted (Actual): May 7, 2024
• Last Update Submitted That Met QC Criteria: May 6, 2024
• Last Verified: May 1, 2024

More Information

Terms related to this study

• Keywords: Williams syndrome; Velocardiofacial syndrome; fragile X syndrome; cognitive phenotype; psychiatric phenotype
• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Nervous System Diseases; Lymphatic Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Endocrine System Diseases; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Musculoskeletal Diseases; Parathyroid Diseases; Aortic Valve Disease; Heart Valve Diseases; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Heart Defects, Congenital; Cardiovascular Abnormalities; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Abnormalities, Multiple; Chromosome Disorders; Sex Chromosome Disorders; Aortic Valve Stenosis; 22q11 Deletion Syndrome; Lymphatic Abnormalities; Hypoparathyroidism; Aortic Stenosis, Supravalvular; Syndrome; Fragile X Syndrome; Williams Syndrome; DiGeorge Syndrome; Physiological Effects of Drugs; Neurotransmitter Agents; Molecular Mechanisms of Pharmacological Action; Central Nervous System Depressants; Antipsychotic Agents; Tranquilizing Agents; Psychotropic Drugs; Neurotransmitter Uptake Inhibitors; Membrane Transport Modulators; Serotonin Agents; Dopamine Agents; Serotonin Antagonists; Dopamine Antagonists; Dopamine Uptake Inhibitors; Central Nervous System Stimulants; Methylphenidate; Risperidone
• Other Study ID Numbers: SCMCI082455CTIL