Motor Deficits and Signal Conduction in Individuals With Williams Syndrome

Withdrawn

• Conditions: Williams Syndrome

• Registration Number: NCT05430763
• Lead Sponsor: Sheba Medical Center

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.

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 Timeline

• Status Verified: 2022-06
• Study First Submitted: 2022-06-15
• Study First Submitted QC: 2022-06-23
• Study First Posted: 2022-06-24
• Study Start: 2023-02
• Last Update Submitted: 2024-06-23
• Last Update Posted: 2024-06-25
• Primary Completion: 2030-08
• Study Completion: 2030-08

Recruitment & Eligibility

• Status: WITHDRAWN
• Sex: All
• Target Recruitment: Not specified

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

Tel Aviv University; 🇮🇱 Tel Aviv, Israel