RecruitingNCT01132885
Neurological
Williams Syndrome
Also known as Williams-Beuren syndrome, WBS, 7q11.23 deletion syndrome, elastin deficiency
Williams syndrome is caused by a heterozygous microdeletion of approximately 26-28 genes on chromosome 7q11.
ORPHA:904 ↗Gene ELN and adjacent genes at 7q11.23Prevalence 1-5 per 10,000 (Orphanet)Onset ChildhoodGenetic (chromosomal microdeletion, usually de novo)
9
studies recruiting now
as of 7 Sept 2026
30
studies registered in total
as of 7 Sept 2026
3
countries with a recruiting site
as of 7 Sept 2026
25 Mar 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNot applicableNCT07469566
Characterization of the Natural History of Microduplication Syndrome 7q11.23
RecruitingNCT06930417
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
RecruitingNCT07493096
Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders
RecruitingPhase 4NCT00768820
The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 9 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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Registry: Williams Syndrome Association Research Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Williams Syndrome
Williams syndrome is caused by a heterozygous microdeletion of approximately 26-28 genes on chromosome 7q11.23, including the ELN gene encoding elastin. The characteristic phenotype includes elfin facial features, intellectual disability with a distinctive cognitive profile (strong verbal skills but weak visuospatial ability), hypersociability, cardiovascular disease (supravalvular aortic stenosis), hypercalcemia, and endocrine abnormalities.
Common clinical features
Supravalvular aortic stenosisHypersociabilityIntellectual disabilityElfin facial featuresHypercalcemiaAnxietyRenal abnormalities
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
2 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 3Clemastine
Phase 2Minoxidil (Loniten)
Before you apply
Things trial teams commonly ask about for Williams Syndrome. Not eligibility rules; those are set by each study.
- Chromosome 7q11.23 deletion confirmed by FISH, chromosomal microarray, or MLPA is required for trial eligibility
- Cardiac evaluation including echocardiogram is required at baseline — SVAS severity affects eligibility and anesthetic risk
- Cognitive profile testing (Wechsler scales, adaptive behavior) is a standard baseline measure
- Calcium and vitamin D levels should be documented; hypercalcemia may be an exclusion criterion in some trials
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).