Mental Retardation Clinical Trial
Official title:
WAGR Syndrome and Other 11p Contiguous Gene Deletions: Clinical Characterization and Correlation With Genotype
Verified date | April 29, 2015 |
Source | National Institutes of Health Clinical Center (CC) |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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
Status | Completed |
Enrollment | 197 |
Est. completion date | April 29, 2015 |
Est. primary completion date | |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 2 Years to 99 Years |
Eligibility |
- INCLUSION CRITERIA: For WAGR/11p deletion subjects: 1. 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 2. 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) 3. 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 For parents of WAGR/11p deletion subjects: a)Biological parent of child with WAGR/11p deletion able to give consent for self participation For healthy control subjects: 1. 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) 2. 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 3. No chronic medical or psychiatric conditions anticipated to affect results or impede study participation For aniridia subjects: 1. Diagnosis of aniridia confirmed by ophthalmologist 2. 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, eye examination, and cognitive, behavioral, and psychiatric assessment performed; subjects age 6y and older will participate in full protocol) 3. Medically stable, with no chronic medical or psychiatric conditions anticipated to affect results or impede study participation EXCLUSION CRITERIA: For WAGR/11p deletion subjects: 1. Anorexiant use in preceding 6 months 2. Greater than 2% body weight loss in preceding 6 months 3. Pregnancy 4. 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: 1. Anorexiant use in preceding 6 months 2. Greater than 2% body weight loss in preceding 6 months 3. Pregnancy 4. 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: 1. Anorexiant use in preceding 6 months 2. Greater than 2% body weight loss in preceding 6 months 3. Pregnancy 4. 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 |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
United States,
Breslow NE, Norris R, Norkool PA, Kang T, Beckwith JB, Perlman EJ, Ritchey ML, Green DM, Nichols KE; National Wilms Tumor Study Group. Characteristics and outcomes of children with the Wilms tumor-Aniridia syndrome: a report from the National Wilms Tumor Study Group. J Clin Oncol. 2003 Dec 15;21(24):4579-85. — View Citation
Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M. WAGR syndrome: a clinical review of 54 cases. Pediatrics. 2005 Oct;116(4):984-8. Review. — View Citation
Pruunsild P, Kazantseva A, Aid T, Palm K, Timmusk T. Dissecting the human BDNF locus: bidirectional transcription, complex splicing, and multiple promoters. Genomics. 2007 Sep;90(3):397-406. Epub 2007 Jul 12. — View Citation
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