Neurológia pre prax 2/2026
Current genetic therapy options for transthyretin amyloidosis
Transthyretin amyloidosis (ATTR) is a severe, progressive multisystem disorder caused by the deposition of amyloid fibrils derived from pathologically unstable transthyretin in various tissues. Clinically, it most commonly manifests as rapidly progressive axonal sensory‑motor polyneuropathy with early autonomic nervous system involvement and/or cardiomyopathy. The development of disease‑modifying therapies, particularly gene “silencers” (molecules that suppress the expression of a specific gene at the mRNA level) based on small interfering RNAs (patisiran, vutrisiran) and antisense oligonucleotides (inotersen, eplontersen), has fundamentally changed the prognosis of affected patients. These agents reduce hepatic transthyretin synthesis, slow the progression of neuropathy or cardiomyopathy, and improve quality of life. This article summarizes the current options for genetic therapy of ATTR in the Czech Republic and discusses the perspectives of emerging therapeutic approaches.
Keywords: prealbumin, amyloidosis, polyneuropathy, cardiomyopathy, small interfering RNA, antisense oligonucleotides, genetic therapy
