Abstract：
Hereditary transthyretin-mediated amyloidosis (ATTRv amyloidosis), known as Corino de Andrade disease, is a rare neurodegenerative disorder with a significant global impact characterized by the misfolding of transthyretin (TTR) protein leading to amyloid aggregation, ATTRv amyloidosis, especially with polyneuropathy, poses a considerable challenge in managing its rapid progression and debilitating effects. This mini-review focuses on the recent advancements in the treatment landscape for ATTRv amyloidosis with polyneuropathy, specifically the RNA interference therapeutic Vutrisiran and the ligand-conjugated antisense oligonucleotide Eplontersen. We aim to provide a comprehensive overview of the mechanisms, current evidence from clinical trials, and future directions for these novel therapeutic agents. Vutrisiran and Eplontersen have demonstrated significant clinical efficacy in improving neuropathic impairment, quality of life, and serum TTR levels in various trials. The distinct mechanistic approaches of these therapies, coupled with their acceptable safety profiles, offer promising avenues for addressing the complexities of ATTRv amyloidosis with polyneuropathy. The introduction of Vutrisiran and Eplontersen marks a pivotal moment in the quest for effective therapies against ATTRv amyloidosis with polyneuropathy. While clinical evidence is promising, ongoing research is crucial to deepen mechanistic understanding and address research gaps. Future perspectives include the potential expansion of therapeutic options and a more inclusive approach to cater to the diverse needs of individuals globally. This mini-review provides valuable insights into the evolving landscape of ATTRv amyloidosis management and sets the stage for further exploration in this challenging domain.
摘要：
遗传性转甲状腺素蛋白介导的淀粉样变性（ATTRv淀粉样变性），被称为CorinodeAndrade病,是一种罕见的神经退行性疾病，具有重大的全球影响，其特征是甲状腺素运载蛋白（TTR）蛋白的错误折叠导致淀粉样蛋白聚集，ATTRv淀粉样变性,尤其是多发性神经病,在管理其快速发展和衰弱影响方面提出了相当大的挑战。这篇小型综述集中在ATTRv淀粉样变性伴多发性神经病的治疗领域的最新进展，特别是RNA干扰治疗剂Vutrisiran和配体缀合的反义寡核苷酸Eplontersen。我们旨在提供有关机制的全面概述，目前来自临床试验的证据，以及这些新型治疗剂的未来方向。Vutrisiran和Eplontersen在改善神经病变方面表现出显著的临床疗效。生活质量,和各种试验中的血清TTR水平。这些疗法的独特机制方法，再加上他们可接受的安全概况，为解决ATTRv淀粉样变性与多发性神经病的复杂性提供了有希望的途径。Vutrisiran和Eplontersen的引入标志着寻求有效治疗ATTRv淀粉样变性多发性神经病的关键时刻。虽然临床证据很有希望，正在进行的研究对于加深机械理解和解决研究差距至关重要。未来的前景包括治疗选择的潜在扩展和更具包容性的方法，以满足全球个人的多样化需求。这篇小型评论为ATTRv淀粉样变性管理的不断发展提供了宝贵的见解，并为在这个具有挑战性的领域进一步探索奠定了基础。
