NCT06930417 · University of Pennsylvania
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
What this study is about
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 treatment group$1 focused on different aspects of WS.
View original scientific description
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.
Primary outcome measures
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
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.
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.
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.
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.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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
Where
- Philadelphia, Pennsylvania
Collaborators
Children's Hospital of Philadelphia
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jun 8, 2026 · Source of record for eligibility and locations