Williams Syndrome
Recent clinical, regulatory, research and industry developments relating to this disease.
Neuronal Gtf2i deletion alters mitochondrial and autophagic properties.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 1 clinical trial expected to report results, the earliest in Q3 2027.
Clinical MilestonesViewHide
- 2026-05-01ClinicalClemastine Treatment in Individuals With Williams Syndrome- a Double-blind Placebo Control to Assess the Safety and EfficacyPrimary completion
- 2026-03-18ClinicalThe Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular FactorsResults expected Q3 2027
- 2025-12-30ClinicalRandomized, Double-blind, Controlled Study of Clomastine Fumarate in the Treatment of Williams SyndromeCompleted
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes2
- Transcription Factors, TFIII1
- Williams Syndrome1
Leading journals1
- Communications biology1
Leading researchers8
- Atzmon A1
- Bar E1
- Barak B1
- Elad Sfadia G1
- Elroy Stein O1
- Fischer I1
- Levy G1
- Marco A1
Affiliations (unnormalised)4
- Neuro-Epigenetics Laboratory1
- The Sagol School of Neuroscience1
- The School of Psychological Sciences1
- The Shmunis School of Biomedicine & Cancer Research1
Reference
Authoritative identity, definition & identifiers.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.