NCT06930417 Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
| NCT ID | NCT06930417 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University of Pennsylvania |
| Condition | Williams Beuren Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 2,000 participants |
| Start Date | 2024-10-21 |
| Primary Completion | 2040-10-21 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 2,000 participants in total. It began in 2024-10-21 with a primary completion date of 2040-10-21.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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 carrying other variants of 7q11.23 chromosome and to build a DNA and tissue biobank with samples donated by affected individuals. The study has multiple arms focused on different aspects of WS. Participants with genetic diagnosis of WS or other variants of 7q11.23 and their family members are eligible to participate. Study participants may participate in one or multiple arms of the study: 1. Natural History Genotype-Phenotype Study to test the hypothesis that health, behavior, and developmental variability observed in WS is determined by genetic factors and to characterize those genetic changes. Participants of all ages are eligible to participate. Either a blood or saliva sample is required for participation. 2. Biobank: the research team is building a biobank enabling the development of new laboratory tools and models to study WS and test new treatment approaches. A blood sample is required for participation. Participants of all ages are eligible to participate. 3. Development arm of the study aims to delineate the development of language, cognition, personality, literacy and mathematics skills, and adaptive behavior from very early childhood through adulthood in individuals who have WS or Dup7. The purpose of this study also includes determining the predictors of specific aspects of development (e.g., word reading ability, language ability, spatial ability) for individuals with WS or Dup7. Affected individuals of all ages are eligible to participate. 4. Transition to Adulthood study aims to understand how young adults with WS make a successful transition out of high school into adulthood and to help them in this journey by providing a comprehensive psychosocial transition coupled with a medical transition plan. Individuals ages 14-25 years old are eligible to participate. Study requires three in person visits. 5. Health Outcomes, Resilience, Independence, and Executive functioning in Neurodevelopment (HORIZON) aims to characterize physical, mental health, cognitive, social, adaptive, aging, and quality of life outcomes for adults with WS, stress and resilience for caregivers, and the interplay between caregiver stress and resilience with outcomes for adults with WS. 6. Sleep and Activity Study aims to expand knowledge on sleep difficulties experienced by individuals with WS and to better understand the connection between sleep, activity (movement through the day), prescribed medications and other traits in WS.
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
Contact & Investigator
Daniel Rader, MD
PRINCIPAL INVESTIGATOR
University of Pennsylvania
Frequently Asked Questions
Who can join the NCT06930417 clinical trial?
This trial is open to participants of all sexes, studying Williams Beuren Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06930417 currently recruiting?
Yes, NCT06930417 is actively recruiting participants. Contact the research team at dasha.fleyshman@pennmedicine.upenn.edu for enrollment information.
Where is the NCT06930417 trial being conducted?
This trial is being conducted at Philadelphia, United States.
Who is sponsoring the NCT06930417 clinical trial?
NCT06930417 is sponsored by University of Pennsylvania. The principal investigator is Daniel Rader, MD at University of Pennsylvania. The trial plans to enroll 2,000 participants.