Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants

Launched by UNIVERSITY OF PENNSYLVANIA · Apr 8, 2025

Keywords

ClinConnect Summary

This clinical trial is studying Williams syndrome (WS) and related genetic changes found on chromosome 7q11.23. The main goal is to understand how these conditions affect development, health, and behavior in individuals with WS as they grow up and transition to adulthood. The researchers are also building a biobank, which is a collection of DNA and tissue samples, to help develop new treatments and research tools for WS. Participants can join different parts of the study, which include taking genetic samples through blood or saliva, examining their development from childhood through adulthood, and exploring how young adults with WS can successfully transition from high school to independent living.

To be eligible for this study, individuals must have a confirmed diagnosis of Williams syndrome or related genetic conditions, or be biological family members of someone affected. The study welcomes participants of all ages, although those aged 14-25 will take part in a specific program focused on transitioning to adulthood. Participants can expect to share their experiences and provide samples that could lead to better understanding and treatment options for WS in the future.

Gender

ALL

Eligibility 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