Motor Deficits and Signal Conduction in Individuals With Williams Syndrome

Williams Syndrome Clinical Trial

Official title:

Motor Deficits and Signal Conduction in Individuals With Williams Syndrome

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT05430763
• Other study ID #: 5859-19-SMC
• Status: Enrolling by invitation
• Start date: February 2023
• Est. completion date: August 2030

Study information

• Verified date: June 2022
• Source: Sheba Medical Center
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 100
• Est. completion date: August 2030
• Est. primary completion date: August 2030
• Gender: All
• Age group: 3 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Syndrome
• Williams Syndrome

Locations

Country	Name	City	State
Israel	Tel Aviv University	Tel Aviv

Sponsors (2)

Lead Sponsor	Collaborator
Sheba Medical Center	Tel Aviv University

Country where clinical trial is conducted

Israel, 

References & Publications (1)

Barak B, Zhang Z, Liu Y, Nir A, Trangle SS, Ennis M, Levandowski KM, Wang D, Quast K, Boulting GL, Li Y, Bayarsaihan D, He Z, Feng G. Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug. Nat Neurosci. 2019 May;22(5):700-708. doi: 10.1038/s41593-019-0380-9. Epub 2019 Apr 22. Erratum in: Nat Neurosci. 2019 Jul;22(7):1197. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Nerve conduction test - Amplitude	This test's amplitude outcome present a nerve conduction property that can indicate aberrations in signal conduction.	30 days
Primary	Nerve conduction test - Latency	This test's latency outcome present a nerve conduction property that can indicate aberrations in signal conduction.	30 days