Completed

Genetic Mutation Analysis In A VHL Population

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What is being collected

Data Collection

Who is being recruted

Congenital Abnormalities+24

+ 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 27, 2026
Sourced from a government-validated database.Claim as a partner

Study start date: December 1, 2003

Actual 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 27, 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 enrolled

Total 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 sex

Biological sex of participants that are eligible to enroll.

Over 18 Years

Range of ages for which participants are eligible to join.

Healthy volunteers not allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

Congenital AbnormalitiesAbnormalities, MultipleCiliopathiesUrogenital DiseasesAdenocarcinomaAngiomatosisCarcinomaCarcinoma, Renal CellCardiovascular DiseasesFemale Urogenital Diseases and Pregnancy Complicationsvon Hippel-Lindau DiseaseKidney DiseasesKidney NeoplasmsCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNeoplasmsNeoplasms by Histologic TypeNeoplasms by SiteNeoplasms, Glandular and EpithelialNervous System DiseasesUrogenital NeoplasmsUrologic DiseasesUrologic NeoplasmsVascular DiseasesNeurocutaneous SyndromesGenetic Diseases, InbornFemale Urogenital DiseasesMale 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 Office

Bethesda, United StatesOpen Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office in Google Maps
CompletedOne Study Center