32 completed, 21 recruiting, 8 terminated, 7 active not recruiting. 25 Phase 2, 12 Phase 1, 9 Not applicable, 3 Phase 3, 2 Early Phase 1.
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Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Neurocutaneous Syndromes in Children: Prevalence and Clinical Characteristics Sturge-Weber Syndrome, Neurocutaneous Syndromes | Not yet recruiting | Assiut University | 100 | 2026-09-20 | 2026-09-28 | |
| Pediatric Von Hippel-Lindau Disease: Natural History, Predictive Factors, and Long-Term Functional Outcomes of Central Nervous System Hemangioblastomas Von Hippel-Lindau Disease, Central Nervous System Hemangioblastoma | Not yet recruiting | Assistance Publique - Hôpitaux de Paris | 25 | 2026-07-15 | 2026-07-15 | |
| A Study to Investigate Efficacy and Safety of KP-001 Compared With Placebo in Patients Aged ≥2 Years With Common VM, Common LM, or KTS/CLOVES Syndrome KP-001, Placebo - Venous Malformations, Lymphatic Malformations | Phase 3 | Recruiting | Kaken Pharmaceutical | 150 | 2026-05-13 | 2026-09-21 |
| Quality of Life, Psychological Impact, and Care-related Challenges in Patients Affected by Von Hippel-Lindau Syndrome. VHL - Von Hippel-Lindau Syndrome | Active not recruiting | IRCCS Ospedale San Raffaele | 200 | 2026-05-01 | 2026-05-11 | |
| 18F-T2 PET/CT Imaging for CAIX Positive Solid Tumors 18F-T2 PET/CT - Clear Cell Renal Cell Cancer (ccRCC), Urothelial Carcinoma (UC) | Not applicable | Recruiting | Peking University First Hospital | 200 | 2026-04-27 | 2026-05-14 |
| Extension Study for Participants in Studies That Include Belzutifan (MK-6482-043/LITESPARK-043) Belzutifan, Nivolumab, Lenvatinib - Von Hippel-Lindau Disease, Malignant Neoplasms | Phase 3 | Recruiting | Merck Sharp & Dohme LLC | 450 | 2026-03-23 | 2026-10-21 |
| CAT-VHL Exploring the Role of Carbonic Anhydrase IX as Diagnostic and Theranostic Target in Von-Hippel Lindau Disease investigating the role of CAIX as target in VHL disease and in VHL-/- tumors. - VHL - Von Hippel-Lindau Syndrome | Phase 2 | Recruiting | IRCCS Ospedale San Raffaele | 38 | 2026-02-25 | 2026-03-09 |
| Belzutifan VHL RCC HK Prospective Registry VHL - Von Hippel-Lindau Syndrome | Recruiting | Chinese University of Hong Kong | 100 | 2025-12-22 | 2026-10-22 | |
| A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study) RLY-2608, Placebo - PIK3CA-Related Overgrowth Spectrum (PROS), Lymphatic Malformations | Phase 2 | Recruiting | Relay Therapeutics, Inc. | 277 | 2025-06-13 | 2026-08-25 |
| Safety of the Sonablate HIFU System for the Ablation of Incompetent Veins of the Periphery High Intensity focused ultrasound - Chronic Venous Insufficiency, CVI, Venous Malformations | Not applicable | Active not recruiting | Sonablate | 30 | 2024-09-11 | 2026-02-19 |
| Promoting Stress Management and Resilience Among Individuals With Von Hippel- Lindau Disease 3RP-VHL - Von Hippel-Lindau Disease, Genetic Disorder | Not applicable | Active not recruiting | Massachusetts General Hospital | 40 | 2024-07-30 | 2026-06-12 |
| A Study of HS-10516 in Patients With VHL Syndrome Associated Tumors Oral HS-10516 - Von Hippel Lindau-Deficient Clear Cell Renal Cell Carcinoma | Phase 1 | Recruiting | Jiangsu Hansoh Pharmaceutical Co., Ltd. | 60 | 2024-07-19 | 2024-08-14 |
| Institutional Registry of Rare Diseases Rare Diseases, Amyloidosis | Recruiting | Hospital Italiano de Buenos Aires | 380 | 2024-07-01 | 2026-01-14 | |
| MSD Belzutifan PAS Belzutifan - Von Hippel Lindau Disease | Withdrawn | Merck Sharp & Dohme LLC | 2024-06-30 | 2024-11-29 | ||
| Real-World Effectiveness and Pharmacogenetics of Belzutifan in VHL Syndrome: The BELIEVE-VHL Trial Belzutifan - Von Hippel Lindau, Von Hippel Lindau Disease | Phase 2 | Recruiting | José Claudio Casali da Rocha | 100 | 2024-01-01 | 2025-09-11 |
| Overtaking Intra and Inter Tumoral Heterogeneity In Von Hippel-Lindau Related Renal Cancer Blood collection - Clear Cell Renal Cell Carcinoma, VHL Syndrome | Completed | IRCCS San Raffaele | 3 | 2023-11-08 | 2026-10-16 | |
| Establishment of a Multidimensional Prediction Model for the Natural Course of VHL Disease-related Renal Cell Carcinoma Single cell sequencing, whole genome and metabolomic sequencing - VHL Syndrome, Renal Cell Carcinoma | Unknown | Peking University First Hospital | 300 | 2023-09-08 | 2024-04-30 | |
| Data Collection Protocol for Patients With Von Hippel Lindau Disease Von Hippel Lindau Disease | Recruiting | M.D. Anderson Cancer Center | 125 | 2023-08-24 | 2026-06-26 | |
| Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells Blood and urine sample collection - Carcinoma, Renal Cell, Von Hippel-Lindau Disease | Recruiting | IRCCS San Raffaele | 50 | 2023-06-30 | 2024-01-10 | |
| 68Ga-NY104 PET/CT in Von Hippel-Lindau Disease 68Ga-NY104 PET/CT Contrast-enhanced MRI of the brain and contrast-enhanced CT of abdomen and pelvis) 68Ga-NODAGA-LM3 PET/CT (exploratory) - Von Hippel-Lindau Disease | Phase 2 | Unknown | Peking Union Medical College Hospital | 19 | 2023-05-01 | 2023-05-11 |
Showing 20 of 79. Sign in to see all of them.
von Hippel-Lindau Disease (55) · Sturge-Weber Syndrome (17) · Carcinoma, Renal Cell (14) · Hemangioblastoma (10) · Klippel-Trenaunay-Weber Syndrome (8) · Pheochromocytoma (7) · Vascular Malformations (7) · Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (6) · Lymphatic Abnormalities (6) · Paraganglioma (6) · Kidney Neoplasms (5) · Tuberous Sclerosis (5) · Multiple Endocrine Neoplasia Type 1 (4) · Neoplasms (4) · Neuroendocrine Tumors (4)
Cardiovascular Diseases (79) · Vascular Diseases (78) · Nervous System Diseases (73) · Congenital Abnormalities (68) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (68) · Neurocutaneous Syndromes (68) · Genetic Diseases, Inborn (57) · Abnormalities, Multiple (56) · Ciliopathies (55) · Neoplasms (50) · Neoplasms by Histologic Type (48) · Neoplasms, Vascular Tissue (30) · Hemangioma (27) · Neoplasms by Site (27)
belzutifan (5) · Ranibizumab (3) · Sunitinib (3) · gallium Ga 68 dotatate (3) · Blood Specimen Collection (2) · Cannabidiol (2) · Everolimus (2) · 4-amino-5-fluoro-3-(5-(4-methylpiperazin-1-yl)-1H-benzimidazol-2-yl)quinolin-2(1H)-one (1) · Bevacizumab (1) · E10030 aptamer (1) · Exome Sequencing (1) · Fluorodeoxyglucose F18 (1) · Magnetic Resonance Spectroscopy (1) · Nivolumab (1) · Oxygen-15 (1)
National Eye Institute (NEI) (7) · M.D. Anderson Cancer Center (5) · National Cancer Institute (NCI) (5) · Anne Comi, MD (3) · Merck Sharp & Dohme LLC (3) · National Institute of Neurological Disorders and Stroke (NINDS) (3) · Assistance Publique - Hôpitaux de Paris (2) · Hugo W. Moser Research Institute at Kennedy Krieger, Inc. (2) · IRCCS Ospedale San Raffaele (2) · IRCCS San Raffaele (2) · National Institutes of Health Clinical Center (CC) (2) · Novartis Pharmaceuticals (2) · Peking University First Hospital (2) · Peloton Therapeutics, Inc., a subsidiary of Merck & Co., Inc. (Rahway, New Jersey USA) (2) · Qlaris Bio, Inc. (2)
United States (53) · France (10) · China (8) · Italy (7) · Denmark (5) · Spain (4) · United Kingdom (4) · Australia (3) · Canada (3) · Japan (3) · Netherlands (3) · Russia (3) · South Korea (3) · Belgium (2) · Brazil (2)
Anne M Comi, M.D. (3) · Eric Jonasch, MD (3) · Naris Nilubol, M.D. (3) · Anne M Comi, MD (2) · Prashant Chittiboina, M.D. (2) · Adrian Gadano, MD (1) · Alessandro Larcher, MD (1) · Alex V Levin, MD, MHSc (1) · Alexander Plotkin, PhD (1) · Andrea Salonia, MD (1) · Angus A Wilfong, MD (1) · Aria Fallah, MD (1) · B. Wirostko, M.D. (1) · Beth Drolet, MD (1)
PMID 34783716, PMID 17804777, PMID 21354816, PMID 22105611, PMID 23787357, PMID 24252784, PMID 24579662, PMID 25626035, PMID 28431241, PMID 28782106, PMID 29110021, PMID 29899452, PMID 30236511, PMID 32130814, PMID 33846112, PMID 34549489, PMID 34818478, PMID 37018064, PMID 39284337, PMID 39657598, PMID 39951686, PMID 40228516, PMID 41124218
U54NS065705 (3), 2023 (2), 2018 (1), 2025 (1)