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

NCT06930417 | Recruiting

• 2 other identifiers: 85171923-020775
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

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. 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. 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. 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. 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. 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. 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.

Conditions

Williams Beuren Syndrome; Dup7; Williams Syndrome; Williams Beuren Region Duplication

Keywords

williams syndrome; Dup7; svas; 7q11.23; autism

Outcome Measures

Primary Outcomes (5)

• Assessment of medical concerns in individuals with Williams syndrome and other 7q11.23 variants through review of clinical records.

  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

  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

  Collecting biological specimen (saliva, blood, residual tissues) enabling future research.

  Through study completion, an average of 5 years

• Assessment of quality of life of adolescents and adults with WS

  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.

  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.

  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.

  Through study completion, an average of 5 years

• Characterizing a caregiver stress for the families affected with Williams syndrome

  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.

  Through study completion, an average of 5 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with a clinical and/or molecular diagnosis of Williams Syndrome, 7q11.23 duplication syndrome, or another abnormality in the 7q11.23 region and their relatives

You may qualify if:

• 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 may not qualify if:

• \- No diagnosis of abnormalities in the 7q11.23 region, while not being a biological relative of affected individuals

Sponsors & Collaborators

• University of Pennsylvania: lead
• Children's Hospital of Philadelphia: collaborator

Study Sites (1)

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood (including PBMCs, plasma and serum); Post-surgery residual tissue; DNA (extracted from either blood cells or saliva)

MeSH Terms

Conditions

Williams Syndrome; Aortic Stenosis, Supravalvular; Autistic Disorder

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Heart Diseases; Cardiovascular Diseases; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Ventricular Outflow Obstruction; Autism Spectrum Disorder; Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• Daniel Rader, MD

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

• Carolyn Mervis, PhD

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

• Edward Brodkin, MD

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

• Benjamin Yerys, PhD

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Dasha Fleyshman, PhD

CONTACT

267-449-8075; dasha.fleyshman@pennmedicine.upenn.edu

Armellino Center of Excellence for Williams syndrome

CONTACT

aceforws@pennmedicine.upenn.edu

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Research Program Manager

Study Record Dates

• First Submitted: March 17, 2025
• First Posted: April 16, 2025
• Study Start: October 21, 2024
• Primary Completion (Estimated): October 21, 2040
• Study Completion (Estimated): October 21, 2045
• Last Updated: June 8, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF
• Time Frame: 2027
• Access Criteria: Investigators studying Williams syndrome or Dup7 will be welcomed to apply for de-identified limited data set and/or biospecimen. Final decision on sharing will be made by the research committee at the Armellino Center of Excellence.

Locations

US (1)