Completed

NCT Number: NCT00075348

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

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Kidney Cancer Abnormalities, Multiple Adenocarcinoma Angiomatosis Carcinoma Carcinoma, Renal Cell Cardiovascular Diseases Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Kidney Diseases Kidney Neoplasms Male Urogenital Diseases Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Glandular and Epithelial Nervous System Diseases Neurocutaneous Syndromes Urogenital Diseases Urogenital Neoplasms Urologic Diseases Urologic Neoplasms Vascular Diseases Von Hippel-Lindau Syndrome von Hippel-Lindau Disease

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office

Bethesda, Maryland, 20892-1182, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

mutation analysis

Genetic

Sponsors and collaborators

Lead sponsor

National Institutes of Health Clinical Center (CC)

Nih

Collaborators

National Cancer Institute (NCI)

Registry information

Official study title

Genetic Mutation Analysis In A VHL Population

Important dates

Study start: 2003
Primary completion: 2008
Study completion: 2008
First posted: Jan 12, 2004
Registry last updated: Mar 15, 2012

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed