治疗弗里德里希共济失调的新兴药物和基因疗法。

IF 7.4 2区 医学 Q1 CLINICAL NEUROLOGY
CNS drugs Pub Date : 2024-10-01 Epub Date: 2024-08-08 DOI:10.1007/s40263-024-01113-z
Varlli Scott, Martin B Delatycki, Geneieve Tai, Louise A Corben
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引用次数: 0

摘要

弗里德里希共济失调症(FRDA)会缩短患者的寿命,因此需要寻找能够延缓、阻止或逆转其无情发展轨迹的疗法。本综述介绍了目前处于一期临床试验及以后阶段的弗里德里希共济失调(FRDA)药物和基因疗法的现状。尽管已开发和研究的化合物和靶点在特异性方面取得了重大科学进步,但在有限的招募人群中推进治疗仍面临挑战。目前的疗法主要集中在减少氧化应激和改善线粒体功能、调节 frataxin 控制的代谢途径以及基因替换和编辑。omaveloxolone是首个针对16岁及以上FRDA患者的治疗药物,它的批准令FRDA患者和照顾他们的人倍感兴奋。美国食品和药物管理局批准奥马韦洛酮的过程强调了敏感结果测量的重要性以及自然史研究数据的重要作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
New and Emerging Drug and Gene Therapies for Friedreich Ataxia.

The life shortening nature of Friedreich Ataxia (FRDA) demands the search for therapies that can delay, stop or reverse its relentless trajectory. This review provides a contemporary position of drug and gene therapies for FRDA currently in phase 1 clinical trials and beyond. Despite significant scientific advances in the specificity of both compounds and targets developed and investigated, challenges remain for the advancement of treatments in a limited recruitment population. Currently therapies focus on reducing oxidative stress and improving mitochondrial function, modulating frataxin controlled metabolic pathways and gene replacement and editing. Approval of omaveloxolone, the first treatment for individuals with FRDA aged 16 years and over, has created much excitement for both those living with FRDA and those that care for them. The process of approval of omaveloxolone by the US Food and Drug Administration highlighted the importance of sensitive outcome measures and the significant role of data from natural history studies.

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来源期刊
CNS drugs
CNS drugs 医学-精神病学
CiteScore
12.00
自引率
3.30%
发文量
82
审稿时长
6-12 weeks
期刊介绍: CNS Drugs promotes rational pharmacotherapy within the disciplines of clinical psychiatry and neurology. The Journal includes: - Overviews of contentious or emerging issues. - Comprehensive narrative reviews that provide an authoritative source of information on pharmacological approaches to managing neurological and psychiatric illnesses. - Systematic reviews that collate empirical evidence to answer a specific research question, using explicit, systematic methods as outlined by the PRISMA statement. - Adis Drug Reviews of the properties and place in therapy of both newer and established drugs in neurology and psychiatry. - Original research articles reporting the results of well-designed studies with a strong link to clinical practice, such as clinical pharmacodynamic and pharmacokinetic studies, clinical trials, meta-analyses, outcomes research, and pharmacoeconomic and pharmacoepidemiological studies. Additional digital features (including animated abstracts, video abstracts, slide decks, audio slides, instructional videos, infographics, podcasts and animations) can be published with articles; these are designed to increase the visibility, readership and educational value of the journal’s content. In addition, articles published in CNS Drugs may be accompanied by plain language summaries to assist readers who have some knowledge of, but not in-depth expertise in, the area to understand important medical advances.
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