Recruiting

Observational Study

Sponsor:

National Cancer Institute (NCI)

Code:

NCT00001238

Conditions

Kidney Cancer

Urologic Malignant Disorders

Renal Cell Carcinoma

Familial Renal Cancer (FRC)

Clear Cell Renal Cancer

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Accepted

Study Details

Brief summary:

We will investigate the clinical manifestations and molecular genetic defects of heritable urologic malignant disorders. Families with urologic malignancy with known or suspected genetic basis will be enrolled. Affected individuals or individuals suspected of having a germline urologic malignant disorder will undergo periodic clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed in situations in which the genetic basis of the disorder has not been elucidated.

Conditions

Kidney Cancer

Urologic Malignant Disorders

Renal Cell Carcinoma

Familial Renal Cancer (FRC)

Clear Cell Renal Cancer

Study ID

NCT00001238

Start date

Dec 5, 1990

Status verified date

Mar 11, 2026

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Accepted

  • INCLUSION CRITERIA:

Participants must be greater than or equal to 2 years of age. 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.

Criteria for Acceptance into this Study (i.e., Disease Categories):

Disease Category I

Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is known, including von Hippel-Lindau (VHL) and hereditary papillary renal carcinoma (HPRC).

Disease Category 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, specifically hereditary forms of Type II papillary renal cancer, clear cell renal carcinoma, renal oncocytoma, chromophobe renal carcinoma or Birt Hogg Dube.

Disease Category III

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)).

Enrollment per Subject Category (to include both affected and unaffected biologic relatives)

Subject Category A:

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

Subject Category B:

Category B will include individuals and the biologic relatives of patients with inherited urologic malignancies with the above listed clinical findings who live at a distance and who will not be evaluated at the Clinical Center. In some cases, local diagnostic testing may be necessary for these individuals in addition to collection of a blood sample for molecular analysis.

Subject Category C:

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.

EXCLUSION CRITERIA:

None

Study Design

Enrollment

5000 participants

Anticipated

Interventions and Outcome Measures

Arms

Disease Category 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

Disease Category 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

Disease Category III

Individuals and biologic family members with a urologic malignant disease of suspected, but not proven genetic etiology

Primary outcome measure

  • Identify and describe as yet unknown or uncharacterized inherited urologic malignant disorders. [ Time Frame: on-going ]
  • 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. [ Time Frame: on-going ]
  • 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. [ Time Frame: on-going ]
  • Characterize the natural and clinical histories of inherited urologic malignant disorders. [ Time Frame: on-going ]

Central Contacts and Locations

Central contacts

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact National Cancer Institute Referral Office

888-624-1937

More Information

Sponsor

National Cancer Institute (NCI)

Last update posted

Aug 24, 2026

Last verified

Mar 11, 2026

Keywords

  • Hereditary Papillary Renal Cancer (HPRC)
  • Birt Hogg Dube (BHD)
  • Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC)
  • Pheochromocytoma
  • Von Hippel-Lindau (VHL)

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by National Cancer Institute (NCI) on 2026-08-24.