Williams SyndromeNCT05430763
Motor Deficits and Signal Conduction in Individuals With Williams Syndrome
An observational study of Williams Syndrome, run by Sheba Medical Center at 1 site in Israel.
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. Read more about this study
- Who is it for?
- Ages 3 to 30 years
- Conditions the study is for
- Williams Syndrome
- How many people
- 0 participants
- Where
- 1 siteIsrael
- Study dates
- Feb 2023to Aug 2030
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 30 years
- All sexes
- Child, Adult
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.
Who may be able to join
- WS patients.
Who cannot join
- WS patients suffering from additional neurological condition (such as epilepsy).
- Participants who will have difficulties preforming the tests may ask to be excluded.
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Conditions
- Williams Syndrome
- Keywords
- Williams syndrome, Nerve conduction, Motor deficits
- Medical subject headings
- Williams Syndrome, Neurologic Manifestations
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Nerve conduction test - Amplitude
This test's amplitude outcome present a nerve conduction property that can indicate aberrations in signal conduction.
Measured: 30 days
Nerve conduction test - Latency
This test's latency outcome present a nerve conduction property that can indicate aberrations in signal conduction.
Measured: 30 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Jun 2022
- Study startFeb 2023 (estimated)
- Primary completionAug 2030 (estimated)
- Study completionAug 2030 (estimated)
Why it stopped: No participents enrolled
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Williams SyndromeStudies of the same condition, open and under way.
- More trials run by Sheba Medical CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sheba Medical Center
- Sponsor type
- Other government
- Collaborators
- Tel Aviv University
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05430763
- Sponsor's protocol ID
- 5859-19-SMC
- Status last verified
- Jun 2022
- First submitted
- 15 Jun 2022
- Last updated
- 25 Jun 2024
- Results posted
- No
- Data monitoring committee
- Yes
Publications
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.
PubMed 31011227
Study at a glance
From the registry record, last updated by the sponsor on 25 Jun 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Motor Deficits and Signal Conduction in Individuals With Williams Syndrome
- ClinicalTrials.gov ID
- NCT05430763
- Acronym / sponsor ID
- 5859-19-SMC
- Conditions
- Williams Syndrome
- Keywords
- Williams syndrome, Nerve conduction, Motor deficits
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: No participents enrolled
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Sheba Medical CenterOther government
- Collaborators
- Tel Aviv University
- Study start
- Feb 2023 (estimated)
- Primary completion
- Aug 2030 (estimated)
- Study completion
- Aug 2030 (estimated)
- First posted
- 24 Jun 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 3 to 30 years
- Sex
- All
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (1 listed)
- WS patients.
Key exclusion criteria (2 listed)
- WS patients suffering from additional neurological condition (such as epilepsy).
- Participants who will have difficulties preforming the tests may ask to be excluded.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Nerve conduction test - Amplitude
Time frame: 30 days
This test's amplitude outcome present a nerve conduction property that can indicate aberrations in signal conduction.
Nerve conduction test - Latency
Time frame: 30 days
This test's latency outcome present a nerve conduction property that can indicate aberrations in signal conduction.
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Jun 2024.
- Background: PubMed 31011227Barak 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Williams Syndrome, run by Sheba Medical Center at 1 site in Israel.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 25 Jun 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Israel. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Nerve conduction test - Amplitude (time frame: 30 days). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05430763, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Jun 2024.