Williams Syndrome (WS) Clinical Trials and Treatments

Williams syndrome (WS) is caused by a microdeletion at chromosome 7q11.23 encompassing approximately 26 genes, with the elastin (ELN) gene deletion being the most clinically significant. Deletion of elastin leads to connective tissue abnormalities causing vascular pathology including supravalvular aortic stenosis. Clinically characterized by distinctive "elfin" facial features including broad forehead, short nose with anteverted nares, full lips and cheeks, widely spaced teeth, and long philtrum.

The most common symptoms of Williams Syndrome include Distinctive 'elfin' facial features, Supravalvular aortic stenosis and other cardiac defects, Hypercalcemia and hypercalciuria in infancy, Intellectual disability (mild to moderate), Developmental delays, among others. Williams Syndrome affects approximately 1 in 7,500 to 10,000 people. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Williams Syndrome from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Cardiac screening with echocardiography is essential at diagnosis and periodically (annually or as clinically indicated) to identify supravalvular aortic stenosis and other cardiac abnormalities. Some patients require surgical intervention if stenosis is severe (>50% flow restriction) or progressively worsening.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Williams Syndrome. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

Williams Syndrome is caused by a change in chromosome structure or number rather than a single gene. A contiguous deletion of 25 to 27 genes at 7q11.23, almost always de novo; ELN loss explains the supravalvular aortic stenosis. Detected by chromosomal microarray or FISH rather than single-gene sequencing. It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it. The condition affects approximately 1 in 7,500 to 10,000 people.

Yes. Williams Syndrome is a chromosomal condition rather than a single-gene one, so the test is a chromosomal microarray, FISH, karyotype or DNA methylation study, depending on the change, not gene sequencing. A contiguous deletion of 25 to 27 genes at 7q11.23, almost always de novo; ELN loss explains the supravalvular aortic stenosis. Detected by chromosomal microarray or FISH rather than single-gene sequencing.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it.

The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Williams Syndrome clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Williams Syndrome clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.