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

June 3, 2026 updated by: Dasha Fleyshman, 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 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.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

2000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Recruiting
        • University of Pennsylvania
        • Principal Investigator:
          • Edward Brodkin, MD
        • Contact:
        • Contact:
        • Principal Investigator:
          • Carolyn Mervis, PhD
        • Principal Investigator:
          • Benjamin Yerys, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

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

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
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
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
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.
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
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
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.
Through study completion, an average of 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Pennsylvania

Collaborators

Children's Hospital of Philadelphia

Investigators

  • Principal Investigator: Daniel Rader, MD, University of Pennsylvania
  • Principal Investigator: Edward Brodkin, MD, University of Pennsylvania
  • Principal Investigator: Carolyn Mervis, PhD, University of Pennsylvania
  • Principal Investigator: Benjamin Yerys, PhD, Children's Hospital of Philadelphia

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 21, 2024

Primary Completion (Estimated)

October 21, 2040

Study Completion (Estimated)

October 21, 2045

Study Registration Dates

First Submitted

March 17, 2025

First Submitted That Met QC Criteria

April 8, 2025

First Posted (Actual)

April 16, 2025

Study Record Updates

Last Update Posted (Actual)

June 8, 2026

Last Update Submitted That Met QC Criteria

June 3, 2026

Last Verified

June 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 851719
  • 23-020775 (Other Identifier: Children's Hospital of Philadelphia)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

A limited and de-identified dataset may be available to other researchers

IPD Sharing Time Frame

2027

IPD Sharing 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.

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • ICF

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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