Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Williams Beuren Syndrome, Williams Syndrome, Williams Beuren Region Duplication, Dup7. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Primary outcome measures
- Assessment of medical concerns in individuals with Williams syndrome and other 7q11.23 variants through review of clinical records. [Time frame: Through study completion, an average of 5 years]
- Collection and storage of biological specimens (including saliva, blood, and residual tissues) from individuals with Williams syndrome and other 7q11.23 variants to support future translational and genomic research [Time frame: Through study completion, an average of 5 years]
- Assessment of quality of life of adolescents and adults with WS [Time frame: Through study completion, an average of 5 years]
- Characterization of behavioral concerns in individuals with Williams syndrome and other 7q11.23 variants through review of medical records. [Time frame: Through study completion, an average of 5 years]
- Characterizing a caregiver stress for the families affected with Williams syndrome [Time frame: Through study completion, an average of 5 years]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-only
Study locations
United States · 1 center
- University of Pennsylvania — Philadelphia
Identifiers
NCT: NCT06930417 · 851719 · 23-020775