Genetic Study of Patients With Von Hippel-Lindau Syndrome - Tabular View

Tracking Information

First Received Date ^ICMJE

November 1, 1999

Last Updated Date

February 6, 2009

Start Date ^ICMJE

October 1999

Primary Completion Date

Current Primary Outcome Measures ^ICMJE

Original Primary Outcome Measures ^ICMJE

Change History

Complete list of historical versions of study NCT00003866 on ClinicalTrials.gov Archive Site

Current Secondary Outcome Measures ^ICMJE

Original Secondary Outcome Measures ^ICMJE

Descriptive Information

Brief Title ^ICMJE

Genetic Study of Patients With Von Hippel-Lindau Syndrome

Official Title ^ICMJE

Von Hippel-Lindau Disease Genetic Epidemiology Study

Brief Summary

RATIONALE: Genetic studies may help in understanding the genetic processes involved in the development of some types of cancer.

PURPOSE: Genetic study to determine how reproductive, hormone, and genetic factors, and smoking and diet, may affect the development of cancer in patients who have von Hippel-Lindau syndrome.

Detailed Description

OBJECTIVES: I. Examine the association between cigarette smoking and expression of renal cysts and renal cancers in patients with von Hippel-Lindau (VHL) germline mutations. II. Investigate the association between reproductive and hormonal factors and the development of renal cysts, renal tumors, and hemangioblastomas of the central nervous system (CNS). III. Assess whether the expression of kidney and CNS tumors is modified by the glutathione-S-transferase M1 genotype. IV. Assess the role of diet in VHL disease, in particular, whether the expression of kidney tumors is associated with protein intake.

OUTLINE: Patients are stratified by the presence of mutations in the von Hippel-Lindau gene (yes vs no). Patients participate in a telephone interview which collects information about demographic characteristics, tobacco and alcohol use, reproductive history and hormonal factors, physical activity, use of medications and herbal remedies, occupational history, personal medical history, and family history. Patients then complete a food frequency questionnaire and provide cheek cells (with a mouth rinse). Cheek cells are analyzed for genetic polymorphisms, such as the polymorphic glutathione-S-transferase M1 gene. Patients do not receive the results of this genetic testing and the results do not influence the type or duration of treatment.

PROJECTED ACCRUAL: A total of 600 patients will be accrued for this study.

Study Phase

Study Type ^ICMJE

Observational

Study Design ^ICMJE

Condition ^ICMJE

Kidney Cancer

Intervention ^ICMJE

Genetic: polymorphic microsatellite marker analysis

Study Arms / Comparison Groups

Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status ^ICMJE

Active, not recruiting

Estimated Enrollment ^ICMJE

600

Completion Date

Primary Completion Date

Eligibility Criteria ^ICMJE

DISEASE CHARACTERISTICS: Prior enrollment in NCI-89-C-0086 required Diagnosis of von Hippel-Lindau (VHL) disease OR At risk of VHL disease (carry a mutation in the VHL gene but no clinical disease) OR Family member of patient with VHL disease (no genetic mutation in VHL gene)

PATIENT CHARACTERISTICS: Age: 13 and over Performance status: Not specified Hematopoietic: Not specified Hepatic: Not specified Renal: Not specified

PRIOR CONCURRENT THERAPY: Not specified

Gender

Both

Ages

13 Years and older

Accepts Healthy Volunteers

Contacts ^ICMJE

Contact information is only displayed when the study is recruiting subjects

Location Countries ^ICMJE

United States

Administrative Information

NCT ID ^ICMJE

NCT00003866

Responsible Party

Study ID Numbers ^ICMJE

CDR0000067030, NCI-99-C-0053

Study Sponsor ^ICMJE

National Cancer Institute (NCI)

Collaborators ^ICMJE

Investigators ^ICMJE

Principal Investigator:

Margaret A. Tucker, MD

NCI - Genetic Epidemiology Branch

Information Provided By

National Cancer Institute (NCI)

Verification Date

February 2007

^ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP