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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.
Sponsor:
National Institutes of Health Clinical Center (CC)
Collaborator:
National Cancer Institute (NCI)
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00075348
First received: January 9, 2004
Last updated: March 14, 2012
Last verified: March 2012
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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:
Von Hippel-Lindau Disease
Genetic and Rare Diseases Information Center resources:
Renal Cell Carcinoma
Von Hippel-Lindau Disease
U.S. FDA Resources
Further study details as provided by National Institutes of Health Clinical Center (CC):
| Estimated Enrollment: | 260 |
| Study Start Date: | December 2003 |
| Study Completion Date: | December 2008 |
| Primary Completion Date: | December 2008 (Final data collection date for primary outcome measure) |
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 (Adult, Senior) |
| Sexes Eligible for Study: | All |
| 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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00075348
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 Institutes of Health Clinical Center (CC)
National Cancer Institute (NCI)
Investigators
| Study Chair: | William M. Linehan, MD | NCI - Urologic Oncology Branch |
More Information
| ClinicalTrials.gov Identifier: | NCT00075348 History of Changes |
| Other Study ID Numbers: |
030148 03-C-0148 CDR0000302478 |
| Study First Received: | January 9, 2004 |
| Last Updated: | March 14, 2012 |
Keywords provided by National Institutes of Health Clinical Center (CC):
|
renal cell carcinoma von Hippel-Lindau syndrome |
Additional relevant MeSH terms:
|
Von Hippel-Lindau Disease Syndrome Kidney Neoplasms Carcinoma, Renal Cell Disease Pathologic Processes Urologic Neoplasms Urogenital Neoplasms Neoplasms by Site Neoplasms Kidney Diseases |
Urologic Diseases Adenocarcinoma Carcinoma Neoplasms, Glandular and Epithelial Neoplasms by Histologic Type Neurocutaneous Syndromes Nervous System Diseases Angiomatosis Vascular Diseases Cardiovascular Diseases |
ClinicalTrials.gov processed this record on September 19, 2017