Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants

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.

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Key information

Conditions

Williams Beuren Syndrome Aortic Stenosis, Supravalvular Aortic Valve Disease Aortic Valve Stenosis Autism Spectrum Disorder Autistic Disorder Cardiovascular Diseases Child Development Disorders, Pervasive Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dup7 Genetic Diseases, Inborn Heart Diseases Heart Valve Diseases Intellectual Disability Mental Disorders Nervous System Diseases Neurobehavioral Manifestations Neurodevelopmental Disorders Neurologic Manifestations Ventricular Outflow Obstruction Williams Beuren Region Duplication Williams Syndrome

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Location status: Recruiting

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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

Collecting medical health records from individuals affected by Williams syndrome and/or other variants of the chromosome 7q11.23 to analyze potential correlation between genetic factors and the scope and severity of medical problems
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

Collecting biological specimen (saliva, blood, residual tissues) enabling future research.
Assessment of quality of life of adolescents and adults with WS

Time frame: Through study completion, an average of 5 years

Using questionnaires and neurodevelopmental and psychiatric measures (AQ-10, CARS2, DSM-5, PHQ-9, SWAN-KY, GAD-7, WAIS-IV, ABAS-3ASQoL, PROMIS, AIR-SDS and more) to describe participant outcomes across the domains of adaptive functioning, executive functioning, self-determination, social functioning, communication skills, daily living skills, mental health (e.g., anxiety, depression, etc.), objective indicators of transition if available (Medicaid waiver status, employment status, etc.), and subjective evaluations of well-being and quality of life.
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

Collecting behavior health records from individuals affected by Williams syndrome and/or other variants of the chromosome 7q11.23 to analyze the potential correlation between genetic factors and the scope and severity of behavior health problems.
Characterizing a caregiver stress for the families affected with Williams syndrome

Time frame: Through study completion, an average of 5 years

Zarit Burden Interview - Screening Form: In this 4-item screening questionnaire, participants will rate their feelings when taking care of their loved ones, such as feelings of stress between providing care and meeting other responsibilities.

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Sponsors and collaborators

Lead sponsor

University of Pennsylvania

Other

Collaborators

Children's Hospital of Philadelphia

Registry information

Important dates

Study start: 2024
Primary completion: 2040
Study completion: 2045
First posted: Apr 16, 2025
Registry last updated: Jun 8, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed