Observational Study of Williams Syndrome and Other Chromosome 7q11.23 Variants
This observational study aims to better understand Williams syndrome (WS) and other genetic changes in the 7q11.23 region of chromosome 7. Researchers will review medical records to assess health concerns, collect biological samples (like saliva or blood) for future research, and evaluate the quality of life for adolescents and adults with WS. The study hopes to enroll up to 2000 participants and will follow individuals for an average of 5 years. You may be eligible if you have a clinical or molecular diagnosis of Williams syndrome, a 7q11.23 duplication syndrome (Dup7), another abnormality in the 7q11.23 region, or if you are a biological parent or sibling of someone with WS.
- Study design
- This is an observational study, meaning no specific interventions are being tested. It aims to enroll up to 2000 participants to characterize the natural history of Williams syndrome and related conditions.
- What's involved
- Participants will have their clinical records reviewed, and biological specimens (saliva, blood, residual tissues) may be collected. Quality of life assessments will also be conducted.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed through study completion, which is an average of 5 years.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
At a glance
Conditions
Where it's being run
1 sites across 1 statesStudy leadership
- Daniel Rader, MD · PRINCIPAL_INVESTIGATOR · University of Pennsylvania
- Carolyn Mervis, PhD · PRINCIPAL_INVESTIGATOR · University of Pennsylvania
- Edward Brodkin, MD · PRINCIPAL_INVESTIGATOR · University of Pennsylvania
- Benjamin Yerys, PhD · PRINCIPAL_INVESTIGATOR · Children's Hospital of Philadelphia
Who to contact
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Do you actually qualify for this trial?
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Inclusion
What this trial measures
- Assessment of medical concerns in individuals with Williams syndrome and other 7q11.23 variants through review of clinical records.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 researchThrough 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 WSThrough 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.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 syndromeThrough 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.