Clinical trial NCT06930417: Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
Official title: Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Williams Beuren Syndrome
Williams Syndrome
Williams Beuren Region Duplication
Dup7
Keywords: williams syndrome
Dup7
svas
7q11.23
autism
Lead sponsor: University of Pennsylvania
Sponsor class: OTHER
Collaborators: name: Children's Hospital of Philadelphia
First posted: 2025-04-16
Enrollment: 2000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
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

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.


Eligibility criteria: 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

Primary outcomes:
measure: Medical and behavior problems
timeFrame: Through study completion, an average of 5 years
measure: Biobank
timeFrame: Through study completion, an average of 5 years
measure: Quality of life
timeFrame: Through study completion, an average of 5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: University of Pennsylvania
state: Pennsylvania
Study officials:
affiliation: University of Pennsylvania
name: Daniel Rader, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: University of Pennsylvania
name: Carolyn Mervis, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: University of Pennsylvania
name: Edward Brodkin, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Children's Hospital of Philadelphia
name: Benjamin Yerys, PhD
role: PRINCIPAL_INVESTIGATOR
References: