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Strategy for identifying repurposed drugs for the treatment of cerebral cavernous malformation
Journal article   Open access   Peer reviewed

Strategy for identifying repurposed drugs for the treatment of cerebral cavernous malformation

Christopher C Gibson, Weiquan Zhu, Chadwick T Davis, Jay A Bowman-Kirigin, Aubrey C Chan, Jing Ling, Ashley E Walker, Luca Goitre, Simona Delle Monache, Saverio Francesco Retta, …
Circulation (New York, N.Y.), Vol.131(3), pp.289-299
01/20/2015
DOI: 10.1161/CIRCULATIONAHA.114.010403
PMCID: PMC4356181
PMID: 25486933
url
https://doi.org/10.1161/CIRCULATIONAHA.114.010403View
Published (Version of record) Open Access

Abstract

Cerebral cavernous malformation (CCM) is a hemorrhagic stroke disease affecting up to 0.5% of North Americans that has no approved nonsurgical treatment. A subset of patients have a hereditary form of the disease due primarily to loss-of-function mutations in KRIT1, CCM2, or PDCD10. We sought to identify known drugs that could be repurposed to treat CCM. We developed an unbiased screening platform based on both cellular and animal models of loss of function of CCM2. Our discovery strategy consisted of 4 steps: an automated immunofluorescence and machine-learning-based primary screen of structural phenotypes in human endothelial cells deficient in CCM2, a secondary screen of functional changes in endothelial stability in these same cells, a rapid in vivo tertiary screen of dermal microvascular leak in mice lacking endothelial Ccm2, and finally a quaternary screen of CCM lesion burden in these same mice. We screened 2100 known drugs and bioactive compounds and identified 2 candidates, cholecalciferol (vitamin D3) and tempol (a scavenger of superoxide), for further study. Each drug decreased lesion burden in a mouse model of CCM vascular disease by ≈50%. By identifying known drugs as potential therapeutics for CCM, we have decreased the time, cost, and risk of bringing treatments to patients. Each drug also prompts additional exploration of biomarkers of CCM disease. We further suggest that the structure-function screening platform presented here may be adapted and scaled to facilitate drug discovery for diverse loss-of-function genetic vascular disease.
Animals Cells, Cultured Central Nervous System Neoplasms - drug therapy Central Nervous System Neoplasms - pathology Cholecalciferol - pharmacology Cholecalciferol - therapeutic use Disease Models, Animal Drug Repositioning - methods Drug Screening Assays, Antitumor - methods Endothelial Cells - drug effects Endothelial Cells - pathology Free Radical Scavengers - pharmacology Free Radical Scavengers - therapeutic use Hemangioma, Cavernous, Central Nervous System - drug therapy Hemangioma, Cavernous, Central Nervous System - pathology Humans Mice Mice, Knockout Mice, Transgenic Treatment Outcome

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