用于治疗早产婴儿严重癫痫的反义RNA-动脉网

Antisense RNA for the treatment of severe epilepsy in premature infants

D-Pharm 等信源发布 2025-04-28 11:38

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A child is born prematurely at the LMU Hospital and suffers from epileptic seizures almost continuously. The girl has an ultra-rare disease: an early and severe

一个婴儿在慕尼黑大学医院早产，并且几乎持续地遭受癫痫发作。这个女孩患有一种极其罕见的疾病：早期且严重的…

epilepsy

癫痫

with a so-called sodium channel mutation, an 'SCN2A-associated developmental and epileptic encephalopathy' (SCN2A-DEE). All conventional seizure-interrupting therapies remain unsuccessful. Then a team from the Dr. von Hauner Children's Hospital, together with the Neonatology Department and the Pediatric Epilepsy Center at the LMU Clinic and the TUM Clinic, ventured a new treatment approach.

患有所谓的钠通道突变，即“SCN2A相关发育性和癫痫性脑病”（SCN2A-DEE）。所有传统的癫痫发作中断疗法均未成功。随后，来自冯·哈勒儿童医院的团队与LMU诊所的新生儿科和儿科癫痫中心以及TUM诊所共同尝试了一种新的治疗方法。

The therapy is proving effective and has now been published in 'Nature Medicine'..

该疗法证明有效并且现已发表在《自然医学》上。

Developmental disorders and epilepsies in childhood are often genetic. SCN2A-DEE is caused by mutations in the SCN2A gene. This gene leads to the production of a special protein: a sodium channel that plays a crucial role in the function of nerve cells. Changes in this gene lead to a defective protein and to impaired signal transmission in the brain.

儿童发育障碍和癫痫常常具有遗传性。SCN2A-DEE是由SCN2A基因突变引起的。该基因导致一种特殊蛋白质的产生：一种在神经细胞功能中起关键作用的钠通道。这个基因的改变会导致蛋白质缺陷，并影响大脑中的信号传递。

The result: very early epileptic seizures beginning before the age of three months and severe developmental disorders. .

结果：在三个月大之前就开始出现癫痫发作，并伴有严重的发育障碍。

In the case of the affected child from Munich, the genetic defect was diagnosed in the womb. The value of such genetic tests has increased considerably with the advent of new precision therapies, as in the best case an innovative personalized therapy concept can be developed on the basis of a specific diagnosis.

在慕尼黑受影响儿童的案例中，基因缺陷在子宫内就被诊断出来。随着新的精准治疗方法的出现，这类基因测试的价值大幅提升，因为在最佳情况下，可以基于特定诊断开发出创新的个性化治疗方案。

Neuropaediatrics - the specialist field that deals with neurological diseases in children and adolescents - is a pioneering discipline in this area, even if these therapies are only available for a few diagnoses to date and many scientific, technical, ethical and care-specific questions remain unanswered..

神经儿科——这个专注于儿童和青少年神经系统疾病的专科领域——是这一领域的先锋学科，尽管迄今为止这些疗法仅适用于少数诊断，且许多科学、技术、伦理和护理相关的问题仍未得到解答。

Small RNA fragments offer hope

小RNA片段带来希望

Antisense oligonucleotides (ASOs) play a special role in the context of precision therapies. These are small nucleic acid fragments that bind RNA, can intervene to modulate cell biology and are seen as a particular beacon of hope in precision medicine. For example, they can inhibit the production of disease-promoting proteins.

反义寡核苷酸 (ASOs) 在精准治疗领域中扮演着特殊的角色。这些是结合RNA的小核酸片段，能够干预并调节细胞生物学过程，被视为精准医学中一个特别有希望的突破口。例如，它们可以抑制促进疾病的蛋白质的产生。

The ASO 'Elsunersen' used in the new study targets the mRNA of the SCN2A gene and leads to its degradation. This means that no faulty protein can be produced, which causes the symptoms of the disease..

新研究中使用的 ASO “Elsunersen” 针对 SCN2A 基因的 mRNA，并导致其降解。这意味着不会产生引发疾病症状的错误蛋白质。

The doctors injected the Elsunersen directly into the girl's spinal canal. Conventional therapy was carried out in parallel. The result: an interruption of the permanent seizures and a reduction in the frequency of seizures by more than 60 percent to five to seven seizures per hour, which lasted until the age of 22 months and enabled clinical care stability.

医生将Elsunersen直接注射到女孩的脊髓腔中。同时进行了常规治疗。结果：持续发作中断，发作频率减少了60％以上，降至每小时五到七次，这一效果一直持续到22个月大，使临床护理得以稳定。

Nevertheless, the severe neurological developmental disorders remained, possibly due to the long period of time with the disease in the womb. Regarding the safety of the treatment, there were no serious side effects over a period of 20 months of therapy with 19 administrations..

然而，严重的神经发育障碍依然存在，可能是由于在子宫内患病时间过长。关于治疗的安全性，在20个月的治疗期间，经过19次给药，没有出现严重的副作用。

Precision therapies will become increasingly important in medicine

精准治疗在医学中将变得越来越重要。

'The study underlines the potential of ASO therapies for genetic diseases,' says Dr. Matias Wagner, group leader for nucleic acid therapies at the Institute of Human Genetics at the TUM Clinic and also working at the LMU Clinic during the study phase: 'In the future, on the one hand, there will be the use of approved drugs for precision therapies or we will test their efficacy in clinical trials at the center.

“这项研究强调了ASO疗法在遗传疾病中的潜力，”TUM诊所人类遗传学研究所核酸治疗组组长、同时在研究阶段也在LMU诊所工作的马蒂亚斯·瓦格纳博士表示：“未来一方面会将已批准的药物用于精准治疗，或者我们将在中心进行它们的临床试验以测试其疗效。”

On the other hand, there are patients for whom no such treatment option is yet available. We would like to develop effective ASO therapies for these patients.' .

另一方面，还有一些患者目前没有这样的治疗选择。我们希望为这些患者开发有效的ASO疗法。'

'With the advent of ASO therapies, a new chapter in epileptology has begun,' emphasizes Prof. Ingo Borggräfe, Head of the Pediatric Epilepsy Center at LMU Hospital: 'Successful treatment requires extensive clinical experience, considerable human and logistical resources and interdisciplinary cooperation, which will continue to shape the orientation of our center now and in the coming years.'.

“随着ASO疗法的到来，癫痫学的新篇章已经开启，”LMU医院儿科癫痫中心主任英格·博尔格拉费教授强调：“成功的治疗需要丰富的临床经验、大量的人力和后勤资源以及跨学科的合作，这将继续塑造我们中心现在和未来几年的发展方向。”

The Munich team and its cooperation partners now want to develop ASOs for other rare neuropaediatric diseases, embedded in competent care structures and building on the knowledge gained and the expertise of the participating research groups within this cross-university network.

慕尼黑团队及其合作伙伴现在希望为其他罕见的神经儿科疾病开发ASOs，依托于完善的护理结构，并在此跨大学网络中参与的研究小组所获得的知识和专业知识的基础上进行。

Note: This article has been translated using a computer system without human intervention. LUMITOS offers these automatic translations to present a wider range of current news. Since this article has been translated with automatic translation, it is possible that it contains errors in vocabulary, syntax or grammar.

注意：本文已通过计算机系统翻译，未经过人工干预。LUMITOS 提供这些自动翻译，以呈现更广泛的时事新闻。由于本文是通过自动翻译翻译的，因此可能会包含词汇、句法或语法方面的错误。

The original article in German can be found .

德语原文可以找到。

here

这里

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Original publication

首次出版

Matias Wagner, Géza Berecki, Walid Fazeli, Claudia Nussbaum, Andreas W. Flemmer, Silvana Frizzo, Farina Heer, Florian Heinen, Robert Horton, Henry Jacotin, William Motel, Brian Spar, Christoph Klein, et al.; 'Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathy'; Nature Medicine, 2025-4-22.

马蒂亚斯·瓦格纳、盖扎·贝雷基、瓦利德·法泽利、克劳迪娅·努斯鲍姆、安德烈亚斯·W·弗莱默、西尔瓦娜·弗里佐、法丽娜·希尔、弗洛里安·海宁、罗伯特·霍顿、亨利·雅科坦、威廉·莫特尔、布赖恩·斯帕、克里斯托夫·克莱因等；《早发性SCN2A发育性和癫痫性脑病的早产儿反义寡核苷酸治疗》；《自然医学》，2025年4月22日。

https://www.bionity.com/en/news/1186117/antisense-rna-for-the-treatment-of-severe-epilepsy-in-premature-infants.html

https://www.bionity.com/zh/news/1186117/用于治疗早产婴儿严重癫痫的反义RNA.html

New genes with mutations for developmental disorders identified

发育障碍相关的新基因突变被识别

Tracking down the causes of rare diseases in children

追踪儿童罕见病的病因

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