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Protocol Details

Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

99-C-0053

Sponsoring Institute

National Cancer Institute (NCI)

Recruitment Detail

Type: No longer recruiting/follow-up only
Gender: Male & Female
Min Age: 13
Max Age: 100

Referral Letter Required

Yes

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Gene-Environment Interaction;
Kidney Cancer;
VHL;
Genetic Epidemiology

Recruitment Keyword(s)

None

Condition(s)

Von Hippel Lindau Disease;
Kidney Neoplasms

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Cancer Institute

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.

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Eligibility

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.


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Citations:

Protein intake and risk of renal cell cancer

Neumann HP, Zbar B. Renal cysts, renal cancer and von Hippel-Lindau disease. Kidney Int. 1997 Jan;51(1):16-26.

Germline mutation in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype

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Contacts:

Principal Investigator

Referral Contact

For more information:

Neil E. Caporaso, M.D.
National Cancer Institute (NCI)
BG 9609 RM 7E102
9609 MEDICAL CENTER DR
ROCKVILLE MD 20850
(240) 276-7228
caporasn@epndce.nci.nih.gov

Neil E. Caporaso, M.D.
National Cancer Institute (NCI)
BG 9609 RM 7E102
9609 MEDICAL CENTER DR
ROCKVILLE MD 20850
(240) 276-7228
caporasn@epndce.nci.nih.gov

NCI Referral Office
National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office
1-888-NCI-1937

Clinical Trials Number:

NCT00001803

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