Actively Recruiting
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
Led by University of Pennsylvania · Updated on 2026-06-08
2000
Participants Needed
1
Research Sites
260 weeks
Total Duration
On this page
Sponsors
U
University of Pennsylvania
Lead Sponsor
C
Children's Hospital of Philadelphia
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying individuals diagnosed with Williams syndrome (WS) or carrying other variants of the 7q11.23 chromosome region to better understand their development, health, behavior, and transition to adulthood. This observational natural history study also aims to build a DNA and tissue biobank with samples from affected individuals. It includes multiple study arms that focus on genetic factors, development, health outcomes, sleep, and caregiver stress related to WS and related conditions. Participants may take part in one or several parts of the study. These include genetic and phenotype analysis with blood or saliva samples, a biobank for future research tools, developmental assessments of language and cognitive skills, a transition to adulthood program for ages 14 to 25 with in-person visits, a study of physical and mental health outcomes in adults, and investigation of sleep difficulties and daily activity in WS. Each arm has specific participation requirements and goals. Participants and their families will provide biological samples and medical records for review. They will complete assessments of medical, behavioral, and quality of life factors over an average of five years. The study also evaluates caregiver stress and resilience. Participants can expect questionnaires, clinical record reviews, and possible in-person visits depending on the arm. The research aims to improve knowledge of WS and related conditions through comprehensive long-term observation and sample collection.
CONDITIONS
Brief Title
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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
You will not qualify if you...
- No diagnosis of abnormalities in the 7q11.23 region and not being a biological relative of affected individuals
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Up to 5 years
Participants are observed over time to assess medical concerns, behavioral characteristics, quality of life, and caregiver stress related to Williams syndrome and other 7q11.23 variants.
Trial Site Locations
Total: 1 location
1
University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
Research Team
D
Dasha Fleyshman, PhD
A
Armellino Center of Excellence for Williams syndrome
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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