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

NCT06930417 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 2000

Last updated 2025-04-16

No results posted yet for this study

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.

Conditions

  • Williams Beuren Syndrome
  • Williams Syndrome
  • Williams Beuren Region Duplication
  • Dup7

Sponsors & Collaborators

Principal Investigators

  • Daniel Rader, MD · University of Pennsylvania

  • Carolyn Mervis, PhD · University of Pennsylvania

  • Edward Brodkin, MD · University of Pennsylvania

  • Benjamin Yerys, PhD · Children's Hospital of Philadelphia

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2024-10-21
Primary Completion
2040-10-21
Completion
2045-10-21

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06930417 on ClinicalTrials.gov