Clinical trial NCT05430763: Motor Deficits and Signal Conduction in Individuals With Williams Syndrome
Official title: Motor Deficits and Signal Conduction in Individuals With Williams Syndrome
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: Williams Syndrome
Keywords: Williams syndrome
Nerve conduction
Motor deficits
Lead sponsor: Sheba Medical Center
Sponsor class: OTHER_GOV
Collaborators: name: Tel Aviv University
First posted: 2022-06-24
Enrollment: 0
Sex: ALL
Minimum age (years): 3
Maximum age (years): 30
Standard ages: CHILD
ADULT
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Nerve conduction test - Amplitude
timeFrame: 30 days
measure: Nerve conduction test - Latency
timeFrame: 30 days
Secondary outcomes:
Other outcomes:
Locations:
city: Tel Aviv
country: Israel
facility: Tel Aviv University
Study officials:
References:
citation: 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.