Status:
COMPLETED
Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
Lead Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Conditions:
WAGR Syndrome
Wilm's Tumor
Eligibility:
All Genders
2-99 years
Brief 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, anirid...
Detailed Description
WAGR syndrome is a rare genetic disorder characterized by Wilms tumor, aniridia, genitourinary anomalies and mental retardation. The syndrome is caused by heterozygous contiguous gene deletions of var...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- For WAGR/11p deletion subjects:
- 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
- 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:
- 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
- For aniridia subjects:
- Diagnosis of aniridia confirmed by ophthalmologist
- 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)
- Medically stable, with no chronic medical or psychiatric conditions anticipated to affect results or impede study participation
- EXCLUSION CRITERIA:
- 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
Exclusion
Key Trial Info
Start Date :
September 11 2008
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
April 29 2015
Estimated Enrollment :
197 Patients enrolled
Trial Details
Trial ID
NCT00758108
Start Date
September 11 2008
End Date
April 29 2015
Last Update
December 12 2019
Active Locations (1)
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1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892