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

NCT ID: NCT00075348

Last Updated: 2012-03-15

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 260 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2003-12-31
• Study Completion Date: 2008-12-31

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.

Conditions

Kidney Cancer; Von Hippel-lindau Syndrome

Interventions

mutation analysis

Intervention Type: GENETIC

Eligibility Criteria

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

National Cancer Institute (NCI)

NIH

Sponsor Role: collaborator

National Institutes of Health Clinical Center (CC)

NIH

Sponsor Role: lead

Principal Investigators

William M. Linehan, MD

Role: STUDY_CHAIR

NCI - Urologic Oncology Branch

Locations

Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office

Bethesda, Maryland, United States

Countries

United States

Other Identifiers

03-C-0148

Identifier Type: -

Identifier Source: secondary_id

CDR0000302478

Identifier Type: -

Identifier Source: secondary_id

030148

Identifier Type: -

Identifier Source: org_study_id