Condition: Williams Beuren Syndrome · Williams Syndrome · Williams Beuren Region Duplication · Sponsor: University of Pennsylvania
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…
This description comes directly from the study's public registry record.
Dasha Fleyshman, PhD · 267-449-8075 · dasha.fleyshman@pennmedicine.upenn.edu
Armellino Center of Excellence for Williams syndrome · aceforws@pennmedicine.upenn.edu
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| University of Pennsylvania | Philadelphia, Pennsylvania, United States | Recruiting |
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Source record: clinicaltrials.gov/study/NCT06930417