Actively Recruiting
Von Hippel-Lindau and Other Inherited Urologic Malignant Disorders Clinical Manifestations, Diagnosis, Management, and Genetic Studies
Led by National Cancer Institute (NCI) · Updated on 2026-03-31
5000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating inherited urologic malignant disorders, including von Hippel-Lindau (VHL), hereditary papillary renal cancer (HPRC), Birt Hogg Dube (BHD), hereditary leiomyomatosis and renal cell carcinoma (HLRCC), and familial renal cancer. The study aims to identify unknown inherited urologic cancers, understand their genetic causes, and link specific gene mutations to disease traits such as age at onset, symptoms, tissue changes, and recurrence rates. The natural progression and clinical features of these disorders are also being studied in detail. Participants include individuals and families with either confirmed or suspected inherited urologic cancers. Those with known genetic causes like VHL and HPRC or those with suspected but unidentified genetic causes will be enrolled. The study involves genetic testing, clinical assessments, and tracking tumor characteristics such as size, growth, and spread. This helps researchers understand how gene mutations relate to disease presentation and progression. Participants will undergo regular clinical evaluations and genetic analyses to define disease features and natural history. Blood samples for DNA analysis will be collected, and some participants will have imaging studies to assess tumors. The study plans to enroll up to 5,000 individuals, including both affected patients and unaffected family members. Researchers aim to correlate genetic findings with clinical data to better characterize these inherited cancers and improve diagnosis and management.
CONDITIONS
Official Title
Von Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants must be 2 years of age or older.
- Individuals or family members with a suspected or confirmed inherited urologic malignancy where the disease gene is known, including von Hippel-Lindau (VHL) and hereditary papillary renal carcinoma (HPRC).
- Individuals or family members with a suspected or confirmed inherited urologic malignancy where the disease gene is not yet known, including hereditary forms of Type II papillary renal cancer, clear cell renal carcinoma, renal oncocytoma, chromophobe renal carcinoma, or Birt Hogg Dube.
- Individuals or family members with urologic malignant diseases suspected to have a genetic cause, including families with multiple affected members.
- Participants or family members with features suggestive of a heritable urologic malignant disorder, such as renal carcinomas or cysts, cerebellar/spinal/cerebral hemangioblastomas, retinal angioma, pancreatic neuro-endocrine tumors, pheochromocytoma, papillary cystadenoma, endolymphatic sac tumor, skin lesions, spontaneous pneumothorax, lung cysts, thyroid carcinoma, intestinal polyposis, or leiomyomas.
- Participants must provide informed consent (or guardian consent for minors).
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
D
Deborah A Nielsen, R.N.
W
W. Marston Linehan, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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