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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

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ClinicalTrials.gov Identifier: NCT00075348
Recruitment Status : Completed
First Posted : January 12, 2004
Last Update Posted : March 15, 2012
Sponsor:
Collaborator:
National Cancer Institute (NCI)
Information provided by:
National Institutes of Health Clinical Center (CC)

Study Description
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
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:

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 Design
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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

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U.S. FDA Resources

Groups and Cohorts
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Outcome Measures
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Eligibility Criteria
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
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
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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 ClinicalTrials.gov identifier (NCT number): NCT00075348


Locations
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)
Investigators
Study Chair: William M. Linehan, MD NCI - Urologic Oncology Branch
More Information
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

ClinicalTrials.gov Identifier: NCT00075348     History of Changes
Other Study ID Numbers: 030148
03-C-0148
CDR0000302478
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
Syndrome
Kidney Neoplasms
Carcinoma, Renal Cell
Disease
Pathologic Processes
Urologic Neoplasms
Urogenital Neoplasms
Neoplasms by Site
Neoplasms
Kidney Diseases
 Urologic Diseases
Adenocarcinoma
Carcinoma
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Neurocutaneous Syndromes
Nervous System Diseases
Angiomatosis
Vascular Diseases
Cardiovascular Diseases