Article

Targeting COL4A1-Related Small Vessel Disease: Repurposed Pharmacotherapies for Genetic Vasculopathies

2026-05-11

Abstract excerpt

COL4A1-related disorders cause early-onset stroke, intracerebral haemorrhage, visual impairment and kidney disease, often affecting children and young adults, yet no disease-modifying therapies exist. These disorders arise from pathogenic COL4A1 variants that disrupt type IV collagen and impair small-vessel integrity, leading to cerebral small-vessel disease and endothelial dysfunction. We performed a mechanism-gu...

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Literature Corpus work: 7992f80a-b2c3-5744-a14b-e0036e36ae01
DOI: 10.64898/2026.05.07.723462

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