Genetic Study to Identify Gene Mutations in Participants Previously Enrolled in Clinical Trial NCI-99-C-0053 Who Have Von Hippel-Lindau Syndrome or Are at Risk for Von Hippel-Lindau Syndrome

This study has been completed.

First Received: January 9, 2004 Last Updated: February 10, 2009 History of Changes

Sponsor:	National Cancer Institute (NCI)
Information provided by:	National Cancer Institute (NCI)
ClinicalTrials.gov Identifier:	NCT00075348

Purpose

RATIONALE: The identification of gene mutations in individuals who have or are at risk for von Hippel-Lindau syndrome may allow doctors to better determine the genetic processes involved in the development of cancer.

PURPOSE: This genetic study is finding gene mutations in participants with von Hippel-Lindau syndrome or who are at risk for developing von Hippel-Lindau syndrome.

Condition	Intervention
Kidney Cancer Von Hippel-Lindau Syndrome	Genetic: mutation analysis

Study Type:	Observational
Official Title:	Genetic Mutation Analysis In A VHL Population

Resource links provided by NLM:

Genetics Home Reference related topics: von Hippel-Lindau syndrome

MedlinePlus related topics: Cancer Kidney Cancer Von Hippel-Lindau Disease

U.S. FDA Resources

Further study details as provided by National Cancer Institute (NCI):

Estimated Enrollment:	260
Study Start Date:	December 2003
Primary Completion Date:	December 2008 (Final data collection date for primary outcome measure)

Detailed Description:

OBJECTIVES:

Obtain laboratory identification and confirmation of research results for gene mutations in participants previously enrolled in NCI-99-C-0053 who have von Hippel-Lindau (VHL) syndrome or who are at risk for VHL syndrome.
Determine genotype status in these participants.

OUTLINE: Participants submit a blood or buccal sample for genetic mutation analysis. Participants may receive genetic counseling and/or the results of genetic testing, if desired.

PROJECTED ACCRUAL: A maximum of 260 participants will be accrued for this study.

Eligibility

Ages Eligible for Study:	18 Years and older
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

DISEASE CHARACTERISTICS:

Prior enrollment in the von Hippel-Lindau (VHL) Syndrome Epidemiology Study NCI-99-C-0053
Meets 1 of the following criteria:
- Diagnosis of VHL syndrome
- At risk of VHL syndrome
- Family member of patient with VHL syndrome
VHL syndrome genotype is not known

PATIENT CHARACTERISTICS:

Age

Adult

Performance status

Not specified

Life expectancy

Not specified

Hematopoietic

Not specified

Hepatic

Not specified

Renal

Not specified

PRIOR CONCURRENT THERAPY:

Biologic therapy

Not specified

Chemotherapy

Not specified

Endocrine therapy

Not specified

Radiotherapy

Not specified

Surgery

Not specified

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00075348

Locations

United States, Maryland
Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office
Bethesda, Maryland, United States, 20892-1182

Sponsors and Collaborators

National Cancer Institute (NCI)

Investigators

Study Chair:

William M. Linehan, MD

NCI - Urologic Oncology Branch

More Information

Additional Information:

Clinical trial summary from the National Cancer Institute's PDQ® database This link exits the ClinicalTrials.gov site

No publications provided

Study ID Numbers:	CDR0000302478, NCI-03-C-0148
Study First Received:	January 9, 2004
Last Updated:	February 10, 2009
ClinicalTrials.gov Identifier:	NCT00075348 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by National Cancer Institute (NCI):

renal cell carcinoma
von Hippel-Lindau syndrome

Additional relevant MeSH terms:

Disease
Angiomatosis
Neoplasms by Histologic Type
Nervous System Diseases
Vascular Diseases
Urogenital Neoplasms
Urologic Neoplasms
Carcinoma
Neoplasms
Pathologic Processes
Neoplasms by Site

Urologic Diseases
Von Hippel-Lindau Disease
Kidney Neoplasms
Syndrome
Carcinoma, Renal Cell
Cardiovascular Diseases
Kidney Diseases
Adenocarcinoma
Neurocutaneous Syndromes
Neoplasms, Glandular and Epithelial

ClinicalTrials.gov processed this record on November 27, 2009