Williams syndrome
MONDO:0008678A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)
Also known as: Williams syndrome, Williams-Beuren syndrome, Williams-Beuren syndrome (WBS), deletion 7q11.23, monosomy 7q11.23, WBS, WMS, chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb
18 clinical trials for this condition and its sub-types, 18 tagged with Williams syndrome itself.
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New study tests medications for brain symptoms in three genetic disorders
Disease control Recruiting nowThis study looks at thinking and mental health issues in people with Velocardiofacial, Williams, and Fragile X syndromes. Researchers will test how well medications like methylphenidate, fluoxetine, and risperidone improve these symptoms. The goal is to better understand and trea…
Phase 4 • Sponsor: The Chaim Sheba Medical Center • Aim: Disease control
Last updated Jun 27, 2026 11:03 UTC
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New exercise program aims to get adults with intellectual disability moving more
Disease control Recruiting nowThis study tests a 16-week inclusive exercise program called PACE for adults with intellectual disability. Participants will attend fitness classes, meet with coaches, and use a web dashboard to set goals. The trial includes 376 people and will measure daily steps and moderate-to…
Sponsor: University of North Carolina, Chapel Hill • Aim: Disease control
Last updated Jun 27, 2026 09:08 UTC
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NIH launches study to map brain changes in kids with rare genetic disorders
Knowledge-focused Recruiting nowThis study aims to understand how the brain develops in children with Williams syndrome or 7q11.23 duplication syndrome, compared to healthy children. Researchers will use MRI scans and cognitive tests to track changes over time. The goal is to learn how these genetic variations …
Sponsor: National Institute of Mental Health (NIMH) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Massive study aims to unlock the mysteries of williams syndrome
Knowledge-focused Recruiting nowThis observational study follows up to 2,000 people with Williams syndrome or related chromosome changes, along with their family members. Researchers will track health, development, behavior, and quality of life from childhood through adulthood. They are also building a biobank …
Sponsor: University of Pennsylvania • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:04 UTC
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Intensive brain training shows promise for kids with developmental delays
Knowledge-focused Recruiting nowThis study looks at how a 2-week, personalized therapy program helps children aged 4-12 with conditions like cerebral palsy, autism, or genetic disorders. Kids get about 2.5 hours of tailored therapy each day, focusing on skills like movement, attention, and communication. The go…
Sponsor: Healing Hope International • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
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Brain scans reveal why people with williams syndrome talk so well
Knowledge-focused Recruiting nowThis study looks at how hearing sensitivity (hyperacusis) might help language skills in children and adults with Williams syndrome. Researchers will use EEG and NIRS brain scans along with questionnaires to compare participants with Williams syndrome, Down syndrome, and typical d…
Sponsor: Centre Hospitalier Universitaire, Amiens • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC