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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

Genetic Mutation Analysis In A VHL Population

Status
Completed
Phases
Unknown
Study type
Observational
Source
ClinicalTrials.gov
Registry ID
NCT00075348
Enrollment
260
Registered
2004-01-12
Start date
2003-12-31
Completion date
2008-12-31
Last updated
2012-03-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Kidney Cancer, Von Hippel-lindau Syndrome

Keywords

renal cell carcinoma, von Hippel-Lindau syndrome

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.

Interventions

GENETICmutation analysis

Sponsors

National Institutes of Health Clinical Center (CC)
Lead SponsorNIH
National Cancer Institute (NCI)
CollaboratorNIH

Eligibility

Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No

Inclusion 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

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026