Motor Deficits and Signal Conduction in Individuals With Williams Syndrome

NCT05430763 | Withdrawn DMC

• 1 other identifier: 5859-19-SMC
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

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.

Conditions

Williams Syndrome

Keywords

Williams syndrome; Nerve conduction; Motor deficits

Outcome Measures

Primary Outcomes (2)

• Nerve conduction test - Amplitude

  This test's amplitude outcome present a nerve conduction property that can indicate aberrations in signal conduction.

  30 days

• Nerve conduction test - Latency

  This test's latency outcome present a nerve conduction property that can indicate aberrations in signal conduction.

  30 days

Study Arms (2)

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

Eligibility Criteria

• Age: 3 Years - 30 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

• WS patients.

You may not qualify if:

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

Sponsors & Collaborators

• Sheba Medical Center: lead
• Tel Aviv University: collaborator

Study Sites (1)

Tel Aviv University

Tel Aviv, Israel

Location

Related 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.

  PMID: 31011227 BACKGROUND

MeSH Terms

Conditions

Williams Syndrome; Neurologic Manifestations

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Nervous System Diseases; Aortic Stenosis, Supravalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Heart Diseases; Cardiovascular Diseases; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 15, 2022
• First Posted: June 24, 2022
• Study Start: February 1, 2023
• Primary Completion (Estimated): August 1, 2030
• Study Completion (Estimated): August 1, 2030
• Last Updated: June 25, 2024

Record last verified: 2022-06

Locations

IL (1)