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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 is currently recruiting participants.
Verified by National Cancer Institute (NCI), March 2008

Sponsored by: 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
Procedure: mutation analysis

Genetics Home Reference related topics:   von Hippel-Lindau syndrome   

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

U.S. FDA Resources

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

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

Estimated Enrollment:   260
Study Start Date:   December 2003

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     Recruiting
      Bethesda, Maryland, United States, 20892-1182
      Contact: Patient Recruitment     888-NCI-1937        

Sponsors and Collaborators

Investigators
Study Chair:     William M. Linehan, MD     NCI - Urologic Oncology Branch    
  More Information


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

Study ID Numbers:   CDR0000302478, NCI-03-C-0148
First Received:   January 9, 2004
Last Updated:   July 23, 2008
ClinicalTrials.gov Identifier:   NCT00075348
Health Authority:   Unspecified

Keywords provided by National Cancer Institute (NCI):
renal cell carcinoma  
von Hippel-Lindau syndrome  

Study placed in the following topic categories:
Angiomatosis
Von Hippel-Lindau syndrome
Vascular Diseases
Urogenital Neoplasms
Renal cancer
Kidney cancer
Urologic Neoplasms
Carcinoma
Von Hippel-Lindau Disease
Urologic Diseases
Kidney Neoplasms
Carcinoma, Renal Cell
Kidney Diseases
Adenocarcinoma
Urinary tract neoplasm
Neoplasms, Glandular and Epithelial
Neurocutaneous Syndromes

Additional relevant MeSH terms:
Neoplasms
Pathologic Processes
Disease
Neoplasms by Site
Neoplasms by Histologic Type
Syndrome
Nervous System Diseases
Cardiovascular Diseases

ClinicalTrials.gov processed this record on October 10, 2008




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