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Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions

NCT00758108 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 197

Last updated 2019-12-12

No results posted yet for this study

Summary

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

Conditions

  • WAGR Syndrome
  • Wilm's Tumor
  • Aniridia
  • Urogenital Abnormalities
  • Mental Retardation

Sponsors & Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    lead NIH

Principal Investigators

  • Jack A Yanovski, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Eligibility

Min Age
2 Years
Max Age
99 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2008-09-11
Completion
2015-04-29

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00758108 on ClinicalTrials.gov