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
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ClinicalTrials.gov Identifier: NCT00075348 |
Recruitment Status
:
Completed
First Posted
: January 12, 2004
Last Update Posted
: March 15, 2012
|
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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 or disease | Intervention/treatment |
---|---|
Kidney Cancer Von Hippel-lindau Syndrome | Genetic: mutation analysis |
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.
Study Type : | Observational |
Estimated Enrollment : | 260 participants |
Official Title: | Genetic Mutation Analysis In A VHL Population |
Study Start Date : | December 2003 |
Actual Primary Completion Date : | December 2008 |
Actual Study Completion Date : | December 2008 |


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Ages Eligible for Study: | 18 Years and older (Adult, Senior) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
DISEASE CHARACTERISTICS:
- Prior enrollment in the von Hippel-Lindau (VHL) Syndrome Epidemiology Study NCI-99-C-0053
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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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00075348
United States, Maryland | |
Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office | |
Bethesda, Maryland, United States, 20892-1182 |
Study Chair: | William M. Linehan, MD | NCI - Urologic Oncology Branch |
ClinicalTrials.gov Identifier: | NCT00075348 History of Changes |
Other Study ID Numbers: |
030148 03-C-0148 CDR0000302478 |
First Posted: | January 12, 2004 Key Record Dates |
Last Update Posted: | March 15, 2012 |
Last Verified: | March 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 |