Understanding Williams Syndrome and related chromosome variants
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
This study is looking to learn more about the development, health, and behavior of people with Williams syndrome and related chromosome changes by collecting samples and information from them and their families.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 2000 (estimated) |
| Sex | All |
| Sponsor | University of Pennsylvania Academic / other |
| Locations | 1 site (Philadelphia, Pennsylvania) |
| Trial ID | NCT06930417 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with Williams syndrome or other 7q11.23 variants, as well as their biological relatives.
Not a fit: Patients without a diagnosis of abnormalities in the 7q11.23 region and who are not biological relatives of affected individuals may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of Williams syndrome and related conditions.
How similar studies have performed: Other studies focusing on genetic conditions have shown success in characterizing patient populations and improving understanding of genetic influences, making this approach promising.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Philadelphia, Pennsylvania
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.