Therapeutic landscape for Batten disease: current treatments and future prospects.,Nature Reviews Neurology

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Therapeutic landscape for Batten disease: current treatments and future prospects.
Nature Reviews Neurology ( IF 28.2 ) Pub Date : 2019-03-01 , DOI: 10.1038/s41582-019-0138-8
Tyler B Johnson ₁ , Jacob T Cain ₁ , Katherine A White ₁ , Denia Ramirez-Montealegre ₂ , David A Pearce _{1,

3} , Jill M Weimer _{1,

3}

Affiliation

Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of devastating lysosomal storage disorders that collectively represent the most common inherited paediatric neurodegenerative disorders worldwide. Batten disease can result from mutations in 1 of 13 genes. These mutations lead to a group of diseases with loosely overlapping symptoms and pathology. Phenotypically, patients with Batten disease have visual impairment and blindness, cognitive and motor decline, seizures and premature death. Pathologically, Batten disease is characterized by lysosomal accumulation of autofluorescent storage material, glial reactivity and neuronal loss. Substantial progress has been made towards the development of effective therapies and treatments for the multiple forms of Batten disease. In 2017, cerliponase alfa (Brineura), a tripeptidyl peptidase enzyme replacement therapy, became the first globally approved treatment for CLN2 Batten disease. Here, we provide an overview of the promising therapeutic avenues for Batten disease, highlighting current FDA-approved clinical trials and prospective future treatments.

中文翻译：

巴顿病的治疗前景：当前的治疗方法和未来的前景。

Batten 病（也称为神经元蜡样质脂褐素沉积症）是一个破坏性溶酶体贮积症家族，它们共同代表了全世界最常见的遗传性儿科神经退行性疾病。 Batten 病可由 13 个基因中的 1 个基因突变引起。这些突变导致一组症状和病理松散重叠的疾病。从表型上看，巴顿病患者有视力障碍和失明、认知和运动能力下降、癫痫发作和过早死亡。在病理学上，巴顿病的特征是溶酶体中自发荧光储存物质的积累、神经胶质反应性和神经元损失。针对多种形式的巴顿病的有效疗法和治疗方法的开发已经取得了实质性进展。 2017 年，三肽基肽酶替代疗法 cerliponase alfa (Brineura) 成为全球首个获批治疗 CLN2 Batten 病的疗法。在这里，我们概述了 Batten 病的有前途的治疗途径，重点介绍了当前 FDA 批准的临床试验和未来的前瞻性治疗方法。

更新日期：2019-02-20

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