Trial Information

Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study

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.