Completed

Genetic Mutation Analysis In A VHL Population

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What is being collected

Data Collection

Who is being recruted

Congenital Abnormalities
+21

+ Abnormalities, Multiple
+ Ciliopathies
Over 18 Years
See all eligibility criteria
How is the trial designed

Observational
Study Start: December 2003
See protocol details

Summary

Principal SponsorNational Institutes of Health Clinical Center (CC)
Last updated: January 14, 2026
Sourced from a government-validated database.Claim as a partner
Study start date: December 1, 2003Actual date on which the first participant was enrolled.

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.

Official TitleGenetic Mutation Analysis In A VHL Population 
NCT00075348
Principal SponsorNational Institutes of Health Clinical Center (CC)
Last updated: January 14, 2026
Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.
Design Details
260 patients to be enrolledTotal number of participants that the clinical trial aims to recruit.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria
Any sexBiological sex of participants that are eligible to enroll.
Over 18 YearsRange of ages for which participants are eligible to join.
Healthy volunteers not allowedIf individuals who are healthy and do not have the condition being studied can participate.
Conditions
Pathology
Congenital Abnormalities
Abnormalities, Multiple
Ciliopathies
Urogenital Diseases
Angiomatosis
Cardiovascular Diseases
Disease
Female Urogenital Diseases and Pregnancy Complications
von Hippel-Lindau Disease
Kidney Diseases
Kidney Neoplasms
Neoplasms
Neoplasms by Site
Nervous System Diseases
Pathologic Processes
Syndrome
Urogenital Neoplasms
Urologic Diseases
Urologic Neoplasms
Vascular Diseases
Neurocutaneous Syndromes
Genetic Diseases, Inborn
Female Urogenital Diseases
Male Urogenital Diseases
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

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.
This study has 1 location
Suspended
Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral OfficeBethesda, United StatesSee the location
CompletedOne Study Center
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