CompletedNot Applicable

Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions

United States197 participantsStarted 2008-09-11

Plain-language 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

Who can participate

Age range2 Years – 99 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. Diagnosis of WAGR/11p deletion confirmed by prior genetic testing or clinical history consistent with WAGR syndrome (Wilms Tumor and/or genitourinary anomalies plus aniridia). Genetic diagnosis will be confirmed at the NIH, if not done previously
✓. Age greater than or equal to 2 years old (Subjects age 2-6y will only have an outpatient evaluation, one 60 mL (or 5 mL/kg if weight \<12 kg) blood draw, eye examination, and cognitive, behavioral, and psychiatric assessment performed; subjects age 6y and older will participate in full protocol)
✓. Medically stable (so that the patient can safely undergo planned testing); if history of Wilms tumor, must be \>6 months since completion of chemotherapy and must be considered in remission by primary oncologist caring for the patient
✓. Age greater than or eqaul to 2 years old (Subjects age 2-6y will only have an outpatient evaluation, one 60 mL (or 5 mL/kg if weight \<12 kg) blood draw, and cognitive, behavioral, and psychiatric assessment performed; subjects age 6y and older will participate in full protocol)
✓. No chronic medications. Use of as-needed and over-the-counter medications will be reviewed on a case-by-case basis by the Principal Investigator
✓. No chronic medical or psychiatric conditions anticipated to affect results or impede study participation
✓. Diagnosis of aniridia confirmed by ophthalmologist

Trial details

NCT IDNCT00758108

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

Sponsor typeNIH

Study typeOBSERVATIONAL

View on ClinicalTrials.gov More WAGR Syndrome trials

Plain-language summary

Who can participate

Age range2 Years – 99 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. Diagnosis of WAGR/11p deletion confirmed by prior genetic testing or clinical history consistent with WAGR syndrome (Wilms Tumor and/or genitourinary anomalies plus aniridia). Genetic diagnosis will be confirmed at the NIH, if not done previously
✓. Age greater than or equal to 2 years old (Subjects age 2-6y will only have an outpatient evaluation, one 60 mL (or 5 mL/kg if weight \<12 kg) blood draw, eye examination, and cognitive, behavioral, and psychiatric assessment performed; subjects age 6y and older will participate in full protocol)
✓. Medically stable (so that the patient can safely undergo planned testing); if history of Wilms tumor, must be \>6 months since completion of chemotherapy and must be considered in remission by primary oncologist caring for the patient
✓. Age greater than or eqaul to 2 years old (Subjects age 2-6y will only have an outpatient evaluation, one 60 mL (or 5 mL/kg if weight \<12 kg) blood draw, and cognitive, behavioral, and psychiatric assessment performed; subjects age 6y and older will participate in full protocol)
✓. No chronic medications. Use of as-needed and over-the-counter medications will be reviewed on a case-by-case basis by the Principal Investigator
✓. No chronic medical or psychiatric conditions anticipated to affect results or impede study participation
✓. Diagnosis of aniridia confirmed by ophthalmologist

Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions

Plain-language summary

Who can participate

Inclusion criteria

Trial details

Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions

Plain-language summary

Who can participate

Inclusion criteria

Trial details

Exclusion criteria