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

Recruiting

• Conditions: Williams Beuren Syndrome; Williams Syndrome; Williams Beuren Region Duplication; Dup7

• Registration Number: NCT06930417
• Lead Sponsor: University of Pennsylvania

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. 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2024-10-21
• Study First Submitted: 2025-03-17
• Status Verified: 2025-04
• Study First Submitted QC: 2025-04-08
• Last Update Submitted: 2025-04-08
• Study First Posted: 2025-04-16
• Last Update Posted: 2025-04-16
• Primary Completion: 2040-10-21
• Study Completion: 2045-10-21

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 2000

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Medical and behavior problems	Through study completion, an average of 5 years	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.
Biobank	Through study completion, an average of 5 years	Collecting biological specimen (saliva, blood, residual tissues) enabling future research.
Quality of life	Through study completion, an average of 5 years	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

Trial Locations

Locations (1)

University of Pennsylvania; 🇺🇸 Philadelphia, Pennsylvania, United States