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

Kidney Cancer Clinical Trial

Official title:

Genetic Mutation Analysis In A VHL Population

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00075348
• Other study ID #: 030148
• Secondary ID: 03-C-0148CDR0000
• Status: Completed
• Phase: N/A
• First received: January 9, 2004
• Last updated: March 14, 2012
• Start date: December 2003
• Est. completion date: December 2008

Study information

• Verified date: March 2012
• Source: National Institutes of Health Clinical Center (CC)
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 260
• Est. completion date: December 2008
• Est. primary completion date: December 2008
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years and older

Eligibility

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

Study Design

N/A

Related Conditions & MeSH terms

• Kidney Cancer
• Syndrome
• Von Hippel-Lindau Disease
• Von Hippel-lindau Syndrome

Intervention

Genetic:
• mutation analysis

Locations

Country	Name	City	State
United States	Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office	Bethesda	Maryland

Sponsors (2)

Lead Sponsor	Collaborator
National Institutes of Health Clinical Center (CC)	National Cancer Institute (NCI)

Country where clinical trial is conducted

United States,