Motor Deficits and Signal Conduction in Individuals With Williams Syndrome

Sponsor

Sheba Medical Center (Other)

Overall Status

Enrolling by invitation

CT.gov ID

NCT05430763

Collaborator

Tel Aviv University (Other)

100

Enrollment

Location

Anticipated Duration (Months)

1.1

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
Williams Syndrome

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 Design

Study Type:

Observational

Anticipated Enrollment :

100 participants

Observational Model:

Case-Control

Time Perspective:

Prospective

Official Title:

Motor Deficits and Signal Conduction in Individuals With Williams Syndrome

Anticipated Study Start Date :

Feb 1, 2023

Anticipated Primary Completion Date :

Aug 1, 2030

Anticipated Study Completion Date :

Aug 1, 2030

Arms and Interventions

Arm	Intervention/Treatment
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

Outcome Measures

Primary Outcome Measures

Nerve conduction test - Amplitude [30 days]
This test's amplitude outcome present a nerve conduction property that can indicate aberrations in signal conduction.
Nerve conduction test - Latency [30 days]
This test's latency outcome present a nerve conduction property that can indicate aberrations in signal conduction.

Eligibility Criteria

Criteria

Ages Eligible for Study:

3 Years and Older

Sexes Eligible for Study:

All

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.