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Genetic Study in Inherited Urologic Malignancies

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Study AimThis study aims to observe and understand the genetic factors and natural history of inherited urologic cancers by analyzing blood, tissue, and urine samples from individuals with these conditions.
What is being collected

Data Collection

Collected from today forward - Prospective
Who is being recruted

Kidney Cancer
+2

+ Urologic Malignant Disorders
+ Renal Cell Carcinoma
Over 2 Years
+8 Eligibility Criteria

See all eligibility criteria

How is the trial designed

Cohort

Tracking disease incidence in order to identify risk factors and understand disease progression over time.
Observational
Study Start: December 1990

See protocol details

Summary

Principal SponsorNational Cancer Institute (NCI)
Study ContactDeborah A Nielsen, R.N.
Last updated: September 11, 2025
Sourced from a government-validated database.Claim as a partner
Study start date: December 5, 1990Actual date on which the first participant was enrolled.

This study focuses on understanding inherited disorders that lead to urologic cancers, such as kidney cancer. These include conditions like von Hippel-Lindau (VHL), hereditary papillary renal cancer (HPRC), and others. The aim is to explore how these genetic disorders develop and progress, particularly when the specific gene causing the disorder is unknown. By studying the genetic makeup of affected families, researchers hope to uncover new information that could lead to better diagnosis and treatments for these rare cancers. This research is important as it may reveal critical insights into the hereditary nature of these cancers, offering hope for improved care and prevention strategies. Participants in the study will include families with known or suspected inherited urologic cancers. They will provide blood, tissue, and urine samples to help researchers study the genetic factors involved. The study seeks to identify specific genetic mutations and link them to how the disease appears and behaves in individuals, including the age it starts and how often it recurs. By examining these samples, researchers aim to map out the genetic landscape of these disorders, potentially leading to new discoveries in cancer genetics. This process involves no direct treatment but focuses on gathering data to answer scientific questions related to these inherited cancer conditions.

Official TitleVon Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders 
Principal SponsorNational Cancer Institute (NCI)
Study ContactDeborah A Nielsen, R.N.
Last updated: September 11, 2025
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
5000 patients to be enrolledTotal number of participants that the clinical trial aims to recruit.
Cohort
These studies follow a group of individuals with common characteristics (such as a condition or birth year) over a specific period to study health outcomes or exposures.

How participants are selected
Participants are selected without using randomization. They may be chosen based on convenience, access, or willingness to participate. This approach is common when random selection isn’t practical.
Another way to select participants is through a probability sample, where participants are chosen randomly, so everyone has an equal chance to be included.

How information is collected
Researchers start collecting data from the present day forward, following participants over time to observe outcomes. This approach helps identify how exposures or behaviors may lead to health events in the future.Other Ways to Collect Data
Retrospective: These studies use existing medical records or past data.
Cross-sectional: These studies collect data at one single point in time.
Others: Some studies use a mix of approaches or less common designs depending on the research goal.

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 2 YearsRange of ages for which participants are eligible to join.
Healthy volunteers allowedIf individuals who are healthy and do not have the condition being studied can participate.
Conditions
Pathology
Kidney Cancer
Urologic Malignant Disorders
Renal Cell Carcinoma
Familial Renal Cancer (FRC)
Clear Cell Renal Cancer
Criteria
8 inclusion criteria required to participate
Category C will include biologic relatives who enroll in this study primarily for genetic linkage studies. These individuals will contribute a blood sample for DNA analysis only. No imaging diagnostic testing will be performed on individuals from this category.
All participants and guardians (for children younger than 18 years of age) must sign an informed consent document indicating their understanding of the investigational nature and the risks of this study before any protocol related studies are performed.
Category A will include individuals, and biologic relatives, who may or may not be affected who will be evaluated in the Warren G. Magnuson Clinical Center. Individuals in this category will be eligible if they or their biologic family members manifest one or more of the following features in a pattern suggestive of a heritable urologic malignant disorder: * 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
Individuals and biologic family members who have urologic malignant diseases of suspected, but not proven genetic etiology, including families with more than one individual affected by the same or related cancers. A total of 5000 individuals will be enrolled during the study (i.e., that includes individuals registered since the beginning of the protocols in 1989 (89C0086) and 1999 (99C0101)).

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Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.
Treatment Groups
Study Objectives
3 intervention groups 

are designated in this study

This study does not include a placebo group 

Treatment Groups
Group I
Individuals, biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is known, including VHL and HPRC
Group II
Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is not yet known
Group III
Individuals and biologic family members with a urologic malignant disease of suspected, but not proven genetic etiology
Study Objectives
Primary Objectives

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

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

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

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

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
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National Institutes of Health Clinical CenterBethesda, United StatesSee the location
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One Study Center