About Von Hippel-Lindau Disease
Von Hippel-Lindau disease is caused by germline mutations in the VHL tumor suppressor gene, leading to constitutive activation of HIF (hypoxia-inducible factor) and subsequent tumor formation. Patients develop hemangioblastomas of the cerebellum, spinal cord, and retina, clear cell renal cell carcinoma, pheochromocytoma, pancreatic cysts and neuroendocrine tumors, and endolymphatic sac tumors. Belzutifan (Welireg), a HIF-2alpha inhibitor, is approved for VHL-associated tumors.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Von Hippel-Lindau Disease trials.
Germline VHL mutation confirmation (pathogenic or likely pathogenic) is required for trial eligibility
Belzutifan (Welireg) is approved — trials may study combination regimens, different dosing, or next-generation HIF inhibitors
Document all known tumors across organ systems with sizes on MRI/CT — multi-organ burden assessments affect eligibility and staging
Pheochromocytoma must be screened for and biochemically excluded before surgery or certain medications
Patient Resources
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