Von Hippel-Lindau Disease Genetic Epidemiology Study

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Brief Title

Von Hippel-Lindau Disease Genetic Epidemiology Study

Official Title

Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study

Brief Summary

      The Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study is a family-based case-control
      study to be conducted by the National Cancer Institute. The study subjects are 603
      individuals who were determined to belong to families with VHL disease confirmed through
      screening under NIH protocol #89-C-0086 between 1988 and 1998. There are 293 patient
      volunteers with VHL disease and 310 volunteer patients free of VHL disease, most of whom have
      already had genetic testing for mutations in the VHL gene. Adults as well as children aged 13
      - 17 will be included. All subjects will give informed consent prior to participation; for
      minor subjects, assent will be obtained from the minor and consent from the parent/guardian.
      This protocol provides the potential to benefit people with VHL disease (although not
      necessarily the study subjects themselves) and possibly people with sporadic (non-hereditary)
      forms of the tumors which occur in VHL disease. The risks and discomfort associated with this
      study are minor.

      The present protocol is a new epidemiologic component to VHL research at NIH which will
      relate the expression of VHL tumors to lifestyle factors (tobacco and alcohol use; physical
      activity), occupational exposures, reproductive and hormonal factors, demographic factors,
      medication use, diet, and putative susceptibility genes. Information will be collected by
      telephone interview and a written, self-administered diet questionnaire. A cheek cell sample
      will be obtained for analyses of genetic polymorphisms. Medical records will be obtained to
      document events reported by the subject at interview. Primary comparisons will be between VHL
      patients with a particular manifestation and VHL patients who are free of that condition.
      Additional comparisons may be made with unaffected family members who lack a mutation in the
      VHL gene, as appropriate.
    

Detailed Description

      The Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study is a family-based case-control
      study to be conducted by the National Cancer Institute. The study subjects are 603
      individuals who were determined to belong to families with VHL disease confirmed through
      screening under NIH protocol #89-C-0086 between 1988 and 1998. There are 293 patient
      volunteers with VHL disease and 310 volunteer patients free of VHL disease, most of whom have
      already had genetic testing for mutations in the VHL gene. Adults as well as children aged 13
      - 17 will be included. All subjects will give informed consent prior to participation; for
      minor subjects, assent will be obtained from the minor and consent from the parent/guardian.
      This protocol provides the potential to benefit people with VHL disease (although not
      necessarily the study subjects themselves) and possibly people with sporadic (non-hereditary)
      forms of the tumors which occur in VHL disease. The risks and discomfort associated with this
      study are minor.

      The present protocol is a new epidemiologic component to VHL research at NIH which will
      relate the expression of VHL tumors to lifestyle factors (tobacco and alcohol use; physical
      activity), occupational exposures, reproductive and hormonal factors, demographic factors,
      medication use, diet, and putative susceptibility genes. Information will be collected by
      telephone interview and a written, self-administered diet questionnaire. A cheek cell sample
      will be obtained for analyses of genetic polymorphisms. Medical records will be obtained to
      document events reported by the subject at interview. Primary comparisons will be between VHL
      patients with a particular manifestation and VHL patients who are free of that condition.
      Additional comparisons may be made with unaffected family members who lack a mutation in the
      VHL gene, as appropriate.
    


Study Type

Observational


Primary Outcome

To relate the expression of VHL tumors to lifestyle factors (tobacco & alcohol use, physical activity), occupational exposures, reproductive and hormonal factors, demographic factors, medication use, diet, and putative susceptibility gen...


Condition

Von Hippel Lindau Disease



Publications

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

Recruitment Information



Estimated Enrollment

546

Start Date

February 26, 1999

Completion Date

January 9, 2020

Primary Completion Date

January 9, 2020

Eligibility Criteria

        -  INCLUSION CRITERIA:

        Eligible patient volunteers are those who:

          1. have been enrolled in protocol 89-C-0086;

          2. are a member of a family in which at least one person has been diagnosed with VHL at
             NIH; and

          3. are at least 13 years of age.

        Patient volunteers seen under protocol 89-C-0086 who have been diagnosed with VHL, are at
        risk of VHL, or are unaffected are all eligible for study.

        Additional families screened throughout the field period and meeting all eligibility
        criteria will also be able to participate.
      

Gender

All

Ages

13 Years - 100 Years

Accepts Healthy Volunteers

No

Contacts

Neil E Caporaso, M.D., , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT00001803

Organization ID

990053

Secondary IDs

99-C-0053

Responsible Party

Sponsor

Study Sponsor

National Cancer Institute (NCI)


Study Sponsor

Neil E Caporaso, M.D., Principal Investigator, National Cancer Institute (NCI)


Verification Date

January 2020