Research on the Molecular Mechanism of Cognitive Differences Between Williams Syndrome and Autism… (NCT07509879) | Clinical Trial Compass
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Research on the Molecular Mechanism of Cognitive Differences Between Williams Syndrome and Autism Spectrum Disorder
China75 participantsStarted 2026-04-01
Plain-language summary
Williams Syndrome (WS) is a rare neurodevelopmental disorder, usually caused by microdeletions of approximately 26 genes in the long arm (7q11.23) region of chromosome 7. Children with this syndrome often exhibit distinctive facial features, mild to moderate intellectual disability, impaired spatial cognition, pronounced social extraversion, and relatively reserved language-expression characteristics. Although individuals with WS often demonstrate strong social interest and prosocial behaviors, significant deficiencies in abstract thinking, executive function, and visuospatial ability are frequently observed. At present, treatment for WS mainly focuses on behavioral intervention and educational rehabilitation, and clear molecular or pharmacological treatment methods remain limited. Due to the "opposite but related" social-cognitive profile observed in comparison with autism spectrum disorder, in-depth exploration of neural and molecular mechanisms underlying these differences has substantial scientific significance for understanding the biological basis of social-cognitive impairment.
Who can participate
Age range
3 Years – 12 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. Age 3-12 years old.
. Clinically diagnosed and confirmed by fluorescence in situ hybridization (FISH) test, with a typical microdeletion of approximately 1.55 Mb in the chromosome 7q11.23 region.
. Their legal guardians fully understand the study content and voluntarily sign the informed consent form, agreeing for the study participants to undergo blood sampling and genetic testing.
. Age 3-12 years old.
. Clinically diagnosed according to the second edition of the Autism Diagnostic Observation Schedule (ADOS-2) criteria.
. Their legal guardians fully understand the study content and voluntarily sign the informed consent form, agreeing for the study participants to undergo blood sampling and genetic testing.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
The score of Motor Quotient in Peabody Developmental Motor Scales, Second Edition (PDMS-2)
Timeframe: Baseline
2
The score of Developmental Quotient (DQ) in Gesell Developmental Schedules (GDS)
Timeframe: Baseline
3
Fractional Anisotropy (FA)
Timeframe: baseline
4
The score pf Social Responsiveness Scale, Second Edition (SRS-2)
. Age 3-12 years old, with gender as close as possible to the participants in the above two groups.
. No history of neurodevelopmental disorders, mental illnesses or major neurological diseases.
Exclusion criteria
. Specific medical conditions:
. For the Williams Syndrome group: Known or suspected presence of other pathogenic gene mutations/syndromes other than the 7q11.23 microdeletion.
. For the Autism Spectrum Disorder group: Co-occurring other clearly diagnosed neurodevelopmental disorders (such as Rett syndrome, fragile X syndrome, etc.).
. Brain structural abnormalities: According to recent cranial MRI and interpretation by neuro-radiology experts, significant brain structural lesions are found (for the patient group, referring to lesions unrelated to Williams Syndrome or autism; for the healthy group, referring to any clinically significant abnormalities).
. Major systemic diseases: Presence of diseases with clinical significance as judged by the researchers, which may: affect the interpretation of study results, or endanger the safety of the study participants.