Observational Study of Inherited Kidney and Urologic Cancers

This study is looking at inherited kidney and other urologic (urinary system) cancers, including Von Hippel-Lindau (VHL) disease and familial renal cancer. Researchers want to understand how these conditions show up in people, how they progress over time, and what genetic changes cause them. They will also look for new inherited urologic cancers that haven't been identified yet. The goal is to connect specific genetic changes with how the disease affects people, including their age at diagnosis, symptoms, and how often the cancer comes back. This study is for people aged 2 and older, of all genders, who have a known or suspected inherited urologic cancer.

Study design
This is an observational study with a planned enrollment of 5000 participants. It is not testing a specific treatment, but rather observing and collecting information.
What's involved
Participants will undergo periodic clinical assessments and genetic analyses. The specific number or type of visits and tests is not detailed.
Compensation
Not stated in the trial record.
Follow-up
The primary goals of this study are measured on an ongoing basis, suggesting long-term observation.

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NCT00001238

Von Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders

Recruiting
Not specifiedAges 2+Observational
National Cancer Institute (NCI)
~5,000 participants
Updated 2026-08-24 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Identify and describe as yet unknown or uncharacterized inherited urologic malignant disorders.
Measured over on-going
+3 more outcomes measured
Kidney Cancer
Urologic Malignant Disorders
Renal Cell Carcinoma
Familial Renal Cancer (FRC)
Clear Cell Renal Cancer
1 sites across 1 states
Maryland1
  • W. Marston Linehan, M.D. · PRINCIPAL_INVESTIGATOR · National Cancer Institute (NCI)

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

One or more histologically proven or suspected renal carcinomas and/or cysts
Cerebellar, spinal, medullary or cerebral hemangioblastomas
Retinal angioma
Pancreatic neuro-endocrine carcinoma,micro cystadenoma and/or cysts
Pheochromocytoma
Papillary cystadenoma of the epididymis or broad ligament
Endolymphatic sac tumor
Cutaneous fibrofolliculomas or multiple skin-colored papules
History of spontaneous pneumothorax
Lung cysts
Thyroid carcinoma
Intestinal polyposis plus/minus colon cancer
Cutaneous or Uterine leiomyoma or uterine leiomyosarcoma, sarcoma
  • Identify and describe as yet unknown or uncharacterized inherited urologic malignant disorders.on-going

    Collection of blood, tissue \& urine to address further scientific questions related to this protocol.

  • Determine the genetic etiology of hereditary urologic malignant disorders in which the gene variation is unknown, by linkage analysis, positional cloning and evaluation of candidate genes.on-going

    Collection of blood, tissue \& urine to address further scientific questions related to this protocol.

  • Correlate specific mutations and their associated protein domains with disease phenotypic expression based on parameters including presenting age, clinical manifestations, histopathology and rate of recurrence.on-going

    Collection of blood, tissue \& urine to address further scientific questions related to this protocol.

  • Characterize the natural and clinical histories of inherited urologic malignant disorders.on-going

    Collection of blood, tissue \& urine to address further scientific questions related to this protocol.