Trial record 20 of 41 for:    Von Hippel-Lindau Disease (VHL)

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00075348
Recruitment Status : Completed
First Posted : January 12, 2004
Last Update Posted : March 15, 2012
National Cancer Institute (NCI)
Information provided by:
National Institutes of Health Clinical Center (CC)

Brief Summary:

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

Detailed Description:


  • 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

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No


  • 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



  • Adult

Performance status

  • Not specified

Life expectancy

  • Not specified


  • Not specified


  • Not specified


  • Not specified


Biologic therapy

  • Not specified


  • Not specified

Endocrine therapy

  • Not specified


  • Not specified


  • Not specified

Information from the National Library of Medicine

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 identifier (NCT number): NCT00075348

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)
Study Chair: William M. Linehan, MD NCI - Urologic Oncology Branch Identifier: NCT00075348     History of Changes
Other Study ID Numbers: 030148
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
Kidney Diseases
Urologic Diseases
Nervous System Diseases
Vascular Diseases
Cardiovascular Diseases
Kidney Neoplasms
Carcinoma, Renal Cell
Pathologic Processes
Urologic Neoplasms
Urogenital Neoplasms
Neoplasms by Site
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Neurocutaneous Syndromes