Von Hippel-Lindau disease
MONDO:0008667An autosomal dominant disorder caused by pathogenic variants in the VHL gene, leading to an increased risk of various benign and malignant tumors, including hemangioblastomas, retinal hemangiomas, endolymphatic sac tumors, renal cell carcinoma, and pheochromocytomas.
Also known as: Lindau disease, VHL, VHL-related von Hippel-Lindau disease, Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome (VHL), cerebroretinal angiomatosis, familial cerebelloretinal angiomatosis, von Hippel-Lindau disease
24 clinical trials for this condition and its sub-types.
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New Gadolinium-Free MRI dye shows promise for brain scans
Diagnosis CompletedThis study tested a new MRI contrast agent called RVP-001, made with manganese instead of gadolinium, in 18 adults with known brain lesions (like tumors or multiple sclerosis). The goal was to see if it is safe and can detect lesions as well as current gadolinium-based dyes. Each…
Phase: PHASE2 • Sponsor: Reveal Pharmaceuticals Inc. • Aim: Diagnosis
Last updated Jun 27, 2026 08:06 UTC
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Frozen tumors, clearer vision? scientists dig into 20 years of eye records
Knowledge-focused CompletedThis study looks back at 20 years of medical records from 25 people who had a freezing treatment (cryotherapy) for retinal hemangioblastoma, a rare eye tumor often linked to von Hippel-Lindau disease. Researchers want to see how well the treatment controlled the tumors and affect…
Sponsor: National Eye Institute (NEI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:06 UTC
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20-Year study tests precision medicine for rare Brain-Skin disorders
Knowledge-focused CompletedThis completed study looked at 1,200 people with neurocutaneous syndromes (NF1, TSC, SWS, VHL) in Western China. Researchers compared those who received genetic testing, targeted drugs, and coordinated specialist care against those who got standard care. The goal was to see if pr…
Sponsor: West China Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC