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NCT06930417 · ClinicalTrials.gov registry record
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
A clinical trial of Williams Syndrome and Williams Beuren Syndrome, sponsored by University of Pennsylvania.
- Recruiting
- Registry status
- 2,000
- Enrollment target
- 1
- Study location
NCT06930417: Recruiting study of Williams Syndrome and Williams Beuren Syndrome, sponsored by University of Pennsylvania.
NCT06930417 is a study of Williams Syndrome and Williams Beuren Syndrome that is actively recruiting participants, run by University of Pennsylvania. The registered enrollment target is 2,000 participants. The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT06930417, a study of Williams Syndrome and Williams Beuren Syndrome, is actively recruiting participants, sponsored by University of Pennsylvania.
- RECRUITING
- Registry status
- 2,000 participants
- Enrollment target
- 1
- Study location
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.
Primary Outcome
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
Conditions Studied
Study Locations (1)
Pennsylvania
- University of Pennsylvania - Philadelphia
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 2,000 participants |
| Start Date | 2024-10-21 |
| Est. Completion | 2045-10-21 |
What NCT06930417 shows while recruiting
NCT06930417 is an observational study that tracks outcomes without assigning an intervention. Its 2,000 participants enrollment target places it among the larger protocols in the corpus.
The record links to 4 conditions, with Williams Syndrome appearing as the primary indexed condition, and to 0 interventions.
NCT06930417 reports a single indexed study location in Pennsylvania.
Frequently Asked Questions
What is clinical trial NCT06930417 about?
NCT06930417 is a clinical study titled "Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants". 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...
What is the current status of trial NCT06930417?
This trial is currently recruiting. The enrollment target is 2,000 participants. The study started on 2024-10-21. Estimated completion is 2045-10-21.
What conditions does trial NCT06930417 study?
This clinical trial studies the following conditions: Williams Syndrome, Williams Beuren Syndrome, Williams Beuren Region Duplication, Dup7.
Who is sponsoring clinical trial NCT06930417?
This trial is sponsored by University of Pennsylvania, which has 1,423 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT06930417 being conducted?
This trial has 1 study location across Pennsylvania. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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