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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Brief Title

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

Official Title

Genetic Mutation Analysis In A VHL Population

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.
    

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.
    


Study Type

Observational




Condition

Kidney Cancer

Intervention

mutation analysis


Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Genetic

Estimated Enrollment

260

Start Date

December 2003

Completion Date

December 2008

Primary Completion Date

December 2008

Eligibility 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
      

Gender

All

Ages

18 Years - N/A

Accepts Healthy Volunteers

No

Contacts

William M. Linehan, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT00075348

Organization ID

030148

Secondary IDs

03-C-0148


Study Sponsor

National Institutes of Health Clinical Center (CC)

Collaborators

 National Cancer Institute (NCI)

Study Sponsor

William M. Linehan, MD, Study Chair, NCI - Urologic Oncology Branch


Verification Date

March 2012