RecruitingPhase 2NCT04924075
Neurological
Von Hippel-Lindau Disease
Also known as VHL syndrome, VHL disease, familial cerebelloretinal hemangioblastomatosis
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 cereb
ORPHA:892 ↗Gene VHLPrevalence 1-9 per 100,000 (Orphanet)Onset Childhood, Adolescent, AdultAutosomal dominant genetic
17
studies recruiting now
as of 7 Sept 2026
63
studies registered in total
as of 7 Sept 2026
30
countries with a recruiting site
as of 7 Sept 2026
12 Feb 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 3NCT07405164
Extension Study for Participants in Studies That Include Belzutifan (MK-6482-043/LITESPARK-043)
RecruitingNCT01496625
National Eye Institute Biorepository for Retinal Diseases
RecruitingNCT00001238
Von Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders
RecruitingNCT05955014
Data Collection Protocol for Patients With Von Hippel Lindau Disease
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 17 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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Registry: VHL Alliance Patient Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
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
Cerebellar hemangioblastomaRetinal hemangioblastoma causing vision lossClear cell renal cell carcinomaPheochromocytomaPancreatic cystsEndolymphatic sac tumorSpinal hemangioblastoma
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment and 9 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Belzutifan (Welireg)
Phase 2Pazopanib Hydrochloride (Votrient)
Phase 2Fludeoxyglucose F 18 (Fludeoxyglucose f18)
Phase 2Sunitinib (Sunitinib accord)
Phase 2Dovitinib
Phase 2Geldanamycin
Phase 1/2Ranibizumab (Byooviz)
Phase 1/2Sunitinib Malate (Sunitinib malate)
Phase 1/2Pegpleranib Sodium (Fovista)
+ 1 more in development
Before you apply
Things trial teams commonly ask about for Von Hippel-Lindau Disease. Not eligibility rules; those are set by each study.
- 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
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).