Understanding Williams Syndrome and related chromosome variants

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to characterize the development, health, and behavior of individuals diagnosed with Williams syndrome and other variants of the 7q11.23 chromosome. It includes multiple arms focusing on different aspects of the condition, such as a natural history study to explore the genetic factors influencing variability in health and behavior. Participants will provide blood or saliva samples for genetic analysis and contribute to a biobank for future research. Family members of affected individuals are also eligible to participate.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* clinical and/or molecular diagnosis of Williams syndrome (WS)
* biological parents or siblings of individuals diagnosed with WS
* molecular diagnosis of 7q11.23 duplication syndrome (Dup7)
* molecular diagnosis of another abnormality in the 7q11.23 region

Exclusion Criteria:

\- No diagnosis of abnormalities in the 7q11.23 region, while not being a biological relative of affected individuals

Where it's running

• University of Pennsylvania
  Philadelphia, Pennsylvania, United States Recruiting

Study contacts

• Principal investigator: Daniel Rader, MD — University of Pennsylvania
• Study coordinator: Dasha Fleyshman, PhD
• Email: dasha.fleyshman@pennmedicine.upenn.edu
• Phone: 267-449-8075

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• How phonology and sound sensitivity shape language in people with Williams syndrome

  This project tries to see if sensitivity to sound (hyperacusis) and reliance on phonological short-term memory explain why people with Williams syndrome often have strong verbal skills by comparing them to individuals with Down syndrome and typically developing peers using EEG-NIRS and questionnaires.

  Recruiting Centre Hospitalier Universitaire, Amiens · Amiens · NCT07285720

• Inclusive physical activity program for adults with intellectual disabilities

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• Observing the health management of patients with rare genetic syndromes

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• Registry for patients with rare diseases

  This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.

  Recruiting Sanford Health · Sioux Falls, South Dakota · NCT01793168

• Examining brain changes in children with Williams syndrome

  This study looks at how the brains of children with Williams syndrome and similar genetic conditions develop compared to healthy kids, using MRI scans to see the differences.

  Recruiting National Institutes of Health Clinical Center (CC) · Bethesda, Maryland · NCT01132885

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.