Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions

Completed

Conditions studied: WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities, Mental Retardation

In brief

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

Key facts

Study ID: NCT00758108
Run by: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
People needed: 197
Starts: 2008-09-11
Expected to finish: 2015-04-29
Last updated by the study team: 2019-12-12

Who can join

Age: 2 and older, up to 99. Sex: any. Healthy volunteers: accepted.

You may not qualify if…

For WAGR/11p deletion subjects:
Anorexiant use in preceding 6 months
Greater than 2% body weight loss in preceding 6 months
Pregnancy
Individuals who have, or whose parent or guardians have, current substance abuse or a psychiatric disorder or other condition which, in the opinion of the investigators, would impede competence or compliance or possibly hinder completion of the study
For parents of WAGR/11p deletion subjects:
a) No exclusions other than lack of ability to give consent for participation
For healthy control subjects:
Anorexiant use in preceding 6 months
Greater than 2% body weight loss in preceding 6 months
Pregnancy
Individuals who have, or whose parent or guardians have, current substance abuse or a psychiatric disorder or other condition which, in the opinion of the investigators, would impede competence or compliance or possibly hinder completion of the study
For aniridia subjects:
Anorexiant use in preceding 6 months
Greater than 2% body weight loss in preceding 6 months
Pregnancy
Individuals who have, or whose parent or guardians have, current substance abuse or a psychiatric disorder or other condition which, in the opinion of the investigators, would impede competence or compliance or possibly hinder completion of the study

Where it is running

National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States

Full record on ClinicalTrials.gov

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