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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.
National Cancer Institute (NCI)
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: January 9, 2004
Last updated: March 14, 2012
Last verified: March 2012

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:

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)
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.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
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
  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 identifier: 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
  More Information Identifier: NCT00075348     History of Changes
Other Study ID Numbers: 030148
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:
Kidney Neoplasms
Carcinoma, Renal Cell
Von Hippel-Lindau Disease
Pathologic Processes
Urologic Neoplasms
Urogenital Neoplasms
Neoplasms by Site
Kidney Diseases
Urologic Diseases
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Neurocutaneous Syndromes
Nervous System Diseases
Vascular Diseases
Cardiovascular Diseases processed this record on September 25, 2017