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Von Hippel-Lindau Disease Genetic Epidemiology Study

NCT00001803 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 546

Last updated 2020-01-13

No results posted yet for this study

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.

Conditions

  • Von Hippel Lindau Disease
  • Kidney Neoplasms

Sponsors & Collaborators

  • National Cancer Institute (NCI)

    lead NIH

Principal Investigators

  • Neil E Caporaso, M.D. · National Cancer Institute (NCI)

Eligibility

Min Age
13 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
1999-02-26
Primary Completion
2020-01-09
Completion
2020-01-09

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00001803 on ClinicalTrials.gov