Motor Deficits and Signal Conduction in Individuals With Williams Syndrome

June 23, 2024 updated by: Sheba Medical Center
The current study aims to validate basic research findings of abnormal conductivity and motor abilities from a mouse model in humans. The study will measure nerve conduction properties in WS individuals and characterize motor symptoms in individuals with WS.

Study Overview

Status

Withdrawn

Conditions

Detailed Description

50 individuals with WS will take part in the study. All participants will be recruited from the Williams Syndrome Clinic at Edmond and Lili Safra Children's Hospital, Sheba Medical Center directed by Prof. Doron Gothelf, MD, that coordinates treatment and research of WS in Israel. 20 control age-matched subjects will be recruited as well. A Motor Questionnaire, designed especially for this study will be filled by parents. It includes questions about gross motor, fine motor, gait and coordination characteristics of the children (Bellugi, Bihrle et al. 1990, Wilson, Kaplan et al. 2000, Wilson, Crawford et al. 2009) (General references regarding motor abilities and health).

In addition, participants will undergo the following assessments at the neuromuscular clinic and at the movement laboratory, Sheba Medical Center in collaboration with Dr. Amir Dori, Dr. Uri Givon and Dr. Meir Plotnik: (1) nerve conduction study (2) nerve ultrasound (3) neurological assessments (4) GAITRite walkway for gait analysis (5) 3-D motion analysis.

Study Type

Observational

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Israel
      • Tel Aviv, Israel
        • Tel Aviv University

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 years and older (Child, Adult)

Accepts Healthy Volunteers

N/A

Sampling Method

Probability Sample

Study Population

Williams syndrome (WS) is a neurodevelopmental genetic disorder caused by a hemizygous deletion of approximately 25 genes on the long arm of chromosome 7 (7q11.23), with a prevalence of around 1 in 20,000 individuals. Individuals with WS exhibit unique social phenotype marked by strong social appetite and disinhibited social behavior. In addition, WS individuals exhibit cognitive impairments, motor deficits which are poorly defined, and several more physical and psychological phenotypes.

Description

Inclusion Criteria:

  • WS patients.

Exclusion Criteria:

  • WS patients suffering from additional neurological condition (such as epilepsy).
  • Participants who will have difficulties preforming the tests may ask to be excluded.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Williams syndrome
Nerve conduction test (NCT) Nerve ultrasound Clinical evaluation GAITRite walkway Motor questionnaire
Control, age matched
Nerve conduction test (NCT) Nerve ultrasound Clinical evaluation GAITRite walkway Motor questionnaire

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Nerve conduction test - Amplitude
Time Frame: 30 days
This test's amplitude outcome present a nerve conduction property that can indicate aberrations in signal conduction.
30 days
Nerve conduction test - Latency
Time Frame: 30 days
This test's latency outcome present a nerve conduction property that can indicate aberrations in signal conduction.
30 days

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sheba Medical Center

Collaborators

Tel Aviv University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

February 1, 2023

Primary Completion (Estimated)

August 1, 2030

Study Completion (Estimated)

August 1, 2030

Study Registration Dates

First Submitted

June 15, 2022

First Submitted That Met QC Criteria

June 23, 2022

First Posted (Actual)

June 24, 2022

Study Record Updates

Last Update Posted (Actual)

June 25, 2024

Last Update Submitted That Met QC Criteria

June 23, 2024

Last Verified

June 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 5859-19-SMC

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Williams Syndrome

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Denmark

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe