Status:
RECRUITING
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
Lead Sponsor:
University of Pennsylvania
Collaborating Sponsors:
Children's Hospital of Philadelphia
Conditions:
Williams Beuren Syndrome
Williams Syndrome
Eligibility:
All Genders
Brief Summary
The goal of this observational natural history study is to better characterize development, transition to adulthood, health and behavior of individuals diagnosed with Williams syndrome (WS) or carryin...
Eligibility Criteria
Inclusion
- 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
- \- No diagnosis of abnormalities in the 7q11.23 region, while not being a biological relative of affected individuals
Key Trial Info
Start Date :
October 21 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
October 21 2045
Estimated Enrollment :
2000 Patients enrolled
Trial Details
Trial ID
NCT06930417
Start Date
October 21 2024
End Date
October 21 2045
Last Update
April 16 2025
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104