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◆ European Journal of Internal Medicine2026-02-02· Medicine

Precision medicine with pioneering RNAi therapeutics in ATTR amyloidosis: from bench to bedside

Silvia Malinverni, Giuseppe Vergaro, Guglielmo Verona, Aldostefano Porcari

原始摘要(英文原文)· Original abstract
Transthyretin (ATTR) amyloidosis is a multisystem disease caused by misfolding and aggregation of the plasma protein transthyretin (TTR) into insoluble amyloid fibrils in various organs. In clinical practice, ATTRwt amyloidosis manifests as a predominant cardiomyopathy (ATTR-CM), while ATTRv amyloidosis is typically associated with polyneuropathy (ATTR-PN) as well as cardiomyopathy. Over the past decade, major advances in the understanding of ATTR pathophysiology have enabled the development of disease-modifying therapies, marking a paradigm shift toward precision medicine in this condition. Among these, RNA-targeted therapies have emerged as a cornerstone of treatment by directly suppressing hepatic production of TTR. This review provides an overview of the biological rationale, molecular mechanisms, and clinical translation of RNA-based therapeutics in ATTR amyloidosis, with a particular focus on RNA interference (RNAi) and antisense oligonucleotide (ASO) strategies. Key mechanistic differences between small interfering RNAs and ASOs are discussed, including intracellular pathways, pharmacokinetic properties, and delivery platforms such as lipid nanoparticles and GalNAc conjugation for hepatocyte-specific targeting. Major clinical trials evaluating first- and second-generation RNA-targeted agents-including patisiran, vutrisiran, inotersen, and eplontersen-are summarized, highlighting efficacy, safety profiles, dosing regimens, and relevance across different ATTR phenotypes. As RNA-based therapies continue to evolve, integration of molecular insights with clinical phenotyping and real-world evidence will be essential to fully realize the potential of precision medicine for patients with ATTR amyloidosis.
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