Overview

This trial is active, not recruiting.

Conditions von hippel lindau disease, kidney neoplasms
Sponsor National Cancer Institute (NCI)
Start date February 1999
Trial size 546 participants
Trial identifier NCT00001803, 99-C-0053, 990053, NCT00003866

Summary

The Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study is a family-based case-control study to be conducted by the National Cancer Institute. The study subjects are 603 individuals who were determined to belong to families with VHL disease confirmed through screening under NIH protocol #89-C-0086 between 1988 and 1998. There are 293 patient volunteers with VHL disease and 310 volunteer patients free of VHL disease, most of whom have already had genetic testing for mutations in the VHL gene. Adults as well as children aged 13 - 17 will be included. All subjects will give informed consent prior to participation; for minor subjects, assent will be obtained from the minor and consent from the parent/guardian. This protocol provides the potential to benefit people with VHL disease (although not necessarily the study subjects themselves) and possibly people with sporadic (non-hereditary) forms of the tumors which occur in VHL disease. The risks and discomfort associated with this study are minor.

The present protocol is a new epidemiologic component to VHL research at NIH which will relate the expression of VHL tumors to lifestyle factors (tobacco and alcohol use; physical activity), occupational exposures, reproductive and hormonal factors, demographic factors, medication use, diet, and putative susceptibility genes. Information will be collected by telephone interview and a written, self-administered diet questionnaire. A cheek cell sample will be obtained for analyses of genetic polymorphisms. Medical records will be obtained to document events reported by the subject at interview. Primary comparisons will be between VHL patients with a particular manifestation and VHL patients who are free of that condition. Additional comparisons may be made with unaffected family members who lack a mutation in the VHL gene, as appropriate.

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Time perspective retrospective

Primary Outcomes

Measure
To relate the expression of VHL tumors to lifestyle factors (tobacco & alcohol use, physical activity), occupational exposures, reproductive and hormonal factors, demographic factors, medication use, diet, and putative susceptibility gen...
time frame: Ongoing

Eligibility Criteria

Male or female participants from 13 years up to 100 years old.

- INCLUSION CRITERIA: Eligible patient volunteers are those who: 1. have been enrolled in protocol 89-C-0086; 2. are a member of a family in which at least one person has been diagnosed with VHL at NIH; and 3. are at least 13 years of age. Patient volunteers seen under protocol 89-C-0086 who have been diagnosed with VHL, are at risk of VHL, or are unaffected are all eligible for study. Additional families screened throughout the field period and meeting all eligibility criteria will also be able to participate.

Additional Information

Official title Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study
Principal investigator Neil E Caporaso, M.D.
Description The Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study is a family-based case-control study to be conducted by the National Cancer Institute. The study subjects are 603 individuals who were determined to belong to families with VHL disease confirmed through screening under NIH protocol #89-C-0086 between 1988 and 1998. There are 293 patient volunteers with VHL disease and 310 volunteer patients free of VHL disease, most of whom have already had genetic testing for mutations in the VHL gene. Adults as well as children aged 13 - 17 will be included. All subjects will give informed consent prior to participation; for minor subjects, assent will be obtained from the minor and consent from the parent/guardian. This protocol provides the potential to benefit people with VHL disease (although not necessarily the study subjects themselves) and possibly people with sporadic (non-hereditary) forms of the tumors which occur in VHL disease. The risks and discomfort associated with this study are minor. The present protocol is a new epidemiologic component to VHL research at NIH which will relate the expression of VHL tumors to lifestyle factors (tobacco and alcohol use; physical activity), occupational exposures, reproductive and hormonal factors, demographic factors, medication use, diet, and putative susceptibility genes. Information will be collected by telephone interview and a written, self-administered diet questionnaire. A cheek cell sample will be obtained for analyses of genetic polymorphisms. Medical records will be obtained to document events reported by the subject at interview. Primary comparisons will be between VHL patients with a particular manifestation and VHL patients who are free of that condition. Additional comparisons may be made with unaffected family members who lack a mutation in the VHL gene, as appropriate.
Trial information was received from ClinicalTrials.gov and was last updated in November 2016.
Information provided to ClinicalTrials.gov by National Institutes of Health Clinical Center (CC).