Evaluating avalglucosidase alfa for the management of late-onset Pompe disease.

IF 3.4 2区 医学 Q2 CLINICAL NEUROLOGY Expert Review of Neurotherapeutics Pub Date : 2024-03-01 Epub Date: 2024-01-23 DOI:10.1080/14737175.2024.2306855
Corrado Angelini
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Abstract

Introduction: Glycogenosis type II (GSDII) is a rare autosomal disorder that is caused by the deficiency of alpha-glucosidase, a lysosomal enzyme that hydrolyzes glycogen to glucose. Autophagy dysregulation plays a critical role. Importantly, since 2006, both patients with infantile (classic Pompe disease) and adult GSDII (late-onset Pompe disease or LOPD) have been treated with enzyme replacement therapy (ERT). To support this use, several double-blind and observational studies including large cohorts of GSDII patients have been undertaken and have shown ERT to be effective in modifying the natural course of disease. Indeed, most LOPD cases improve in the first 20 months of treatment in a six-minute walk test (6MWT), while those who are untreated do not; instead, their response declines over time.

Areas covered: The author reviews avalglucosidase alpha, a therapy approved by both the FDA and European regulatory agencies. Herein, the author considers the pathophysiological approaches such as the role of enzyme entry, autophagy, and the response to ERT treatment of motor and respiratory components.

Expert opinion: There has been a notable drive toward the research of various aspects of this disease regarding the role of new enzyme penetration and immune adverse events. Consequently, avalglucosidase alpha might be a further step forward.

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评估用于治疗晚发型庞贝氏症的阿瓦糖苷酶α。
简介糖原病 II 型(GSDII)是一种罕见的常染色体疾病,由缺乏α-葡萄糖苷酶引起,α-葡萄糖苷酶是一种能将糖原水解为葡萄糖的溶酶体酶。自噬失调起着关键作用。重要的是,自 2006 年以来,婴儿(典型庞贝氏症)和成人 GSDII(晚发庞贝氏症或 LOPD)患者都接受了酶替代疗法(ERT)。为了支持这种疗法,已经开展了多项双盲和观察性研究,其中包括大量的 GSDII 患者,研究结果表明 ERT 能够有效改变疾病的自然病程。事实上,大多数 LOPD 病例在接受治疗的前 20 个月中,六分钟步行测试(6MWT)的情况都有所改善,而那些未接受治疗的患者则没有改善,相反,他们的反应会随着时间的推移而下降:作者回顾了美国食品及药物管理局和欧洲监管机构批准的一种疗法--阿瓦糖苷酶α。在此,作者考虑了病理生理学方法,如酶进入的作用、自噬以及运动和呼吸部分对 ERT 治疗的反应:专家观点:对这种疾病各方面的研究,尤其是对新酶渗透作用和免疫不良事件的研究,已经取得了显著的进展。因此,α-阿瓦糖苷酶可能是向前迈出的又一步。
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来源期刊
Expert Review of Neurotherapeutics
Expert Review of Neurotherapeutics Medicine-Neurology (clinical)
CiteScore
7.00
自引率
2.30%
发文量
61
审稿时长
4-8 weeks
期刊介绍: Expert Review of Neurotherapeutics (ISSN 1473-7175) provides expert reviews on the use of drugs and medicines in clinical neurology and neuropsychiatry. Coverage includes disease management, new medicines and drugs in neurology, therapeutic indications, diagnostics, medical treatment guidelines and neurological diseases such as stroke, epilepsy, Alzheimer''s and Parkinson''s. Comprehensive coverage in each review is complemented by the unique Expert Review format and includes the following sections: Expert Opinion - a personal view of the data presented in the article, a discussion on the developments that are likely to be important in the future, and the avenues of research likely to become exciting as further studies yield more detailed results Article Highlights – an executive summary of the author’s most critical points
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