Suppr超能文献

神经疾病基因治疗的当前进展与挑战:临床医生综述

Current Advances and Challenges in Gene Therapies for Neurologic Disorders: A Review for the Clinician.

作者信息

Porcari Giulia Stefania, Collyer John Warren, Adang Laura Ann, Rajan Deepa Soundara

机构信息

Children's Hospital of Philadelphia, PA; and.

University of Pittsburgh, UPMC Children's Hospital of Pittsburgh, PA.

出版信息

Neurol Genet. 2025 Jan 13;11(1):e200229. doi: 10.1212/NXG.0000000000200229. eCollection 2025 Feb.

Abstract

Over 300 million people globally are affected by rare diseases, many of which present predominantly with neurologic symptoms. Rare neurologic disorders pose significant diagnostic and therapeutic challenges including delayed diagnoses, limited treatment options, and a shortage of specialists. However, advancements in diagnostics, particularly next-generation sequencing and expansion of newborn screening, have significantly shortened the time to diagnosis for many of these disorders. Concurrently, the past decade has witnessed exponential development of new treatments for rare neurologic diseases, with several approved gene therapies and more trials under way. A range of targeted therapies now offers hope for not only symptomatic management but also for disease modification. As treatments transition from clinical trials to clinical practice, the responsibility of identifying and monitoring patients may increasingly fall on the general neurologists. This evolving therapeutic landscape highlights the urgent need to enhance our understanding of this new class of medications and the details on clinical eligibility and monitoring of patients with diseases that have approved gene therapies. This article provides a comprehensive overview of gene-targeted therapies currently available for neurologic disorders, with a focus on their mechanisms, challenges, and post-treatment considerations.

摘要

全球有超过3亿人受到罕见病的影响,其中许多主要表现为神经系统症状。罕见神经系统疾病带来了重大的诊断和治疗挑战,包括诊断延迟、治疗选择有限以及专家短缺。然而,诊断技术的进步,特别是下一代测序和新生儿筛查范围的扩大,显著缩短了许多此类疾病的诊断时间。与此同时,在过去十年中,罕见神经系统疾病的新疗法呈指数级发展,有几种基因疗法已获批准,还有更多试验正在进行。一系列靶向疗法现在不仅为症状管理带来了希望,也为疾病改善带来了希望。随着治疗从临床试验转向临床实践,识别和监测患者的责任可能越来越多地落在普通神经科医生身上。这种不断演变的治疗格局凸显了迫切需要加强我们对这类新药物的理解,以及对已批准基因疗法疾病患者的临床适用性和监测细节的了解。本文全面概述了目前可用于神经系统疾病的基因靶向疗法,重点介绍其作用机制、挑战以及治疗后注意事项。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3fb6/11731373/4e0676bf2fd9/NXG-2024-100280f1.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验