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.

Conditions

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

Keywords

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

Outcome Measures

Primary Outcomes (3)

• Medical and behavior problems

  Collecting medical and behavior health records from individuals affected by Williams syndrome and/or other variants of the chromosome 7q11.23 and analyze potential correlation between genetic factors and physiological, cognitive and behavior manifestations of listed conditions.

  Through study completion, an average of 5 years

• Biobank

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

  Through study completion, an average of 5 years

• Quality of life

  Making a lost of short-term functional and quality of life outcomes of teens and young adults with WS who are seen through the Armellino Center of Excellence for Williams Syndrome

  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: April 16, 2025

Record last verified: 2025-04

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)