Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
Public ClinicalTrials.gov record NCT00758108. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
WAGR Syndrome and Other 11p Contiguous Gene Deletions: Clinical Characterization and Correlation With Genotype
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of the eye), genital and urinary abnormalities, mental retardation, and possibly other symptoms. This study will examine how the genes on chromosome 11 affect people and whether the absence of specific genes is associated with specific symptoms. Healthy normal volunteers, people with isolated aniridia, and people with WAGR or another chromosome 11 gene deletion may be eligible for this study. Participants must be at least 6 years old. Parents of patients may also participate for genetic studies. Participants undergo some or all of the following procedures, depending on whether they are a child, adult, healthy volunteer or parent of a patient: * Medical history and physical examination, eye examination, blood, urine and saliva tests, electrocardiogram (EKG) and electroencephalogram (EEG) * X-rays, scans and other tests to measure body composition (fat, muscle and bone development and thickness) and MRI to examine the eyes and the brain and to measure abdominal fat * Ultrasound studies of the kidneys, ovaries and uterus (in females) and testes (in males) * Meal tests, food diaries and food preference tests * Questionnaires about eating and sleep habits, personality and character traits and responses to pain and injury * Neuropsychological tests * Tests of resting metabolic rate, energy expenditure and glucose (sugar) tolerance * Hot and cold sensitivity tests, vibration sensitivity test, cold tolerance test and smell identification test * Eye and hearing tests * Nerve conduction studies and study of sensory information conduction from peripheral nerves to the spinal cord and brain * Computer photography * Evaluation by sub-specialists (e.g., endocrinologist, ophthalmologist, physiatrist, neurologist or others) as indicated by the patient s medical history and test results
Study identification
- NCT ID
- NCT00758108
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Enrollment
- 197 participants
Conditions and interventions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 2 Years to 99 Years
- Sex
- All
- Healthy volunteers
- Accepts healthy volunteers
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Sep 10, 2008
- Primary completion
- Not listed
- Completion
- Apr 28, 2015
- Last update posted
- Dec 11, 2019
2008 – 2015
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland | 20892 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT00758108, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Dec 11, 2019 · Synced Sep 10, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT00758108 live on ClinicalTrials.gov.