预约演示

更新于：2025-01-23

SMN2

更新于：2025-01-23

基本信息

别名

BCD541、Component of gems 1、Gemin-1

+ [11]

简介

The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs (PubMed:9845364, PubMed:18984161). Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (Sm core) (PubMed:18984161). In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP (PubMed:18984161). To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A forming an intermediate (PubMed:18984161). Within the SMN complex, SMN1 acts as a structural backbone and together with GEMIN2 it gathers the Sm complex subunits (PubMed:21816274, PubMed:22101937, PubMed:17178713). Binding of snRNA inside 5Sm ultimately triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP (PubMed:31799625). Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development (PubMed:23063131). Also required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination (PubMed:26700805). May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).

关联

项与 SMN2 相关的药物

Risdiplam

利司扑兰

靶点

SMN2

作用机制

SMN2调节剂

在研机构

Hoffmann-La Roche, Inc. [+9]

原研机构

PTC Therapeutics, Inc.

在研适应症

脊髓性肌萎缩 [+3]

非在研适应症-

最高研发阶段批准上市

首次获批国家/地区

美国

首次获批日期2020-08-07

Nusinersen sodium

诺西那生钠

靶点

SMN2

作用机制

SMN2刺激剂 [+1]

在研机构

Biogen, Inc. [+5]

原研机构

Ionis Pharmaceuticals, Inc.

在研适应症

神经肌肉疾病 [+1]

非在研适应症

I型脊髓性肌萎缩症

最高研发阶段批准上市

首次获批国家/地区

美国

首次获批日期2016-12-23

Salanersen

靶点

SMN2

作用机制

SMN2刺激剂

在研机构

Biogen, Inc. [+1]

原研机构

Ionis Pharmaceuticals, Inc.

在研适应症

脊髓性肌萎缩

非在研适应症-

最高研发阶段临床2期

首次获批国家/地区-

首次获批日期1800-01-20

项与 SMN2 相关的临床试验

NCT06555419

/ Not yet recruiting临床1期

An Open Label, Single Cohort Study to Assess the Pharmacokinetic Profile of Nusinersen (BIIB058) Administered Via the ThecaFlex DRx™ System (PIERREPK)

In this PIERRE-PK study, researchers will learn how the body processes nusinersen when it is given through the ThecaFlex DRx™ System, compared to when nusinersen is given by lumbar puncture (LP). The ThecaFlex DRx system is an investigational implantable medical device developed by Alcyone Therapeutics, Inc. It consists of a catheter, which is a flexible tube, connected to a port which is placed under the skin. Alcyone Therapeutics, Inc. has an ongoing study called PIERRE to test the ThecaFlex DRx system. Participants with spinal muscular atrophy (SMA) in the PIERRE study may be enrolled in the PIERRE-PK study.
The main objective of the PIERRE-PK study is to learn how the body processes nusinersen when given by the ThecaFlex DRx system compared to a lumbar puncture. The main questions researchers want to answer are:
* What is the highest amount of nusinersen found in the blood after dosing?
* How much nusinersen is found in the blood over the first 24 hours after dosing?
The PIERRE-PK study will be done as follows:
* Participants will be screened to check if they can join the study. The screening period will be up to 30 days for this study and may overlap with the PIERRE study.
* Participants will receive a dose of nusinersen by lumbar puncture.
* The ThecaFlex DRx system will be implanted after the lumbar puncture, as part of the PIERRE study.
* Participants will receive a dose of nusinersen by the ThecaFlex DRx system, as part of the PIERRE study.
* Researchers will take blood samples before and after each dose. The last blood sample will be taken 24 hours after the dose.
* The total study duration for each participant in the PIERRE-PK study will be up to 5 months. This period will overlap with the participant's first 5 months in the PIERRE study.

开始日期2025-01-31

申办/合作机构

Biogen, Inc.

NCT05861999

/ Recruiting临床4期

A Phase IV Open-Label Study Evaluating the Effectiveness and Safety of Risdiplam Administered in Pediatric Patients With Spinal Muscular Atrophy Who Experienced a Plateau or Decline in Function After Gene Therapy

This is an open-label, single-arm, multicenter clinical study to evaluate the effectiveness and safety of risdiplam administered in pediatric participants with SMA and 2 SMN2 copies who previously received onasemnogene abeparvovec and experience a plateau or decline in function. Participants to be enrolled are children <2 years of age genetically diagnosed with SMA.

开始日期2024-08-14

申办/合作机构

Hoffmann-La Roche, Inc.

NCT05861986

/ Recruiting临床4期

A Phase IV Open-Label Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Patients With Spinal Muscular Atrophy After Gene Therapy

This is an open-label, single-arm, multicenter clinical study to evaluate the effectiveness and safety of risdiplam administered as an early intervention in pediatric participants with spinal muscular atrophy (SMA) and 2 SMN2 copies who have previously received onasemnogene abeparvovec. Participants are children < 2 years of age genetically diagnosed with SMA.

开始日期2024-05-30

申办/合作机构

Hoffmann-La Roche, Inc.

100 项与 SMN2 相关的临床结果

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100 项与 SMN2 相关的转化医学

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0 项与 SMN2 相关的专利（医药）

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1,260

项与 SMN2 相关的文献（医药）

2025-01-01·European Journal of Paediatric Neurology

Efficacy and safety of Nusinersen among children with spinal muscular atrophy from North India: A prospective cohort study (NICE-SMA study)

Article

作者: Malviya, Manisha ; Saini, Arushi G ; Pandey, Abhishek ; Saxena, Somya ; Sirari, Titiksha ; Yaddanapudi, Sandhya ; Sankhyan, Naveen ; Sahu, Jitendra K ; Garg, Shobit ; Suthar, Renu

BACKGROUNDIntra-thecal Nusinersen has been approved for the treatment of Spinal muscular atrophy (SMA). Limited data is available regarding the efficacy and safety of Nusinersen in children with SMA type 2 and 3 from North India.OBJECTIVETo study the efficacy and safety of Nusinersen among children with SMA type 2 and 3 from North India compared to standard of care (SOC) over 12 months.METHODSChildren with a genetically confirmed diagnosis of SMA and ≥2 copies of the SMN2 gene were screened for enrolment in prospective study design. Revised Hammersmith score (RHS) and revised upper limb module (RULM) were assessed every three months. Compound muscle action potentials (CMAPs) at median and ulnar nerves and quality of life (QOL) were performed at baseline and 12 months. Intra-thecal procedure-related and treatment-emergent side effects in children receiving Nusinersen therapy were recorded. Outcome measures at 6 and 12 months were compared between the Nusinersen and SOC groups.RESULTSForty-two children with SMA, mean age of 85 ± 6 months, including 16 in the Nusinersen group and 26 in the SOC group, were enrolled. The mean RHS score in the Nusinersen group increased from the baseline of 35 ± 18 to 38.9 ± 19, and 39.9 ± 17 at 6 and 12 months (p value-0.001), in the SOC group increased from the baseline of 28.8 ± 15, to 29.6 ± 16, and 29.9 ± 17 at 6 and 12 months respectively (p value-0.35). The mean gain in the RHS score over 12 months in the Nusinersen group was significantly higher compared to the SOC group (p-value 0.02). RULM showed significant gain in the Nusinersen group compared to the SOC group over 12 months (p value 0.03). The median and ulnar nerve CMAPs, and QOL were similar in both the groups. A total of 119 intrathecal injections of Nusinersen were given. Most adverse events were mild and related to the intra-thecal procedure.CONCLUSIONIntra-thecal Nusinersen therapy among children with late-onset SMA from North India over 12-month duration was associated with improvement in motor abilities as measured by RHS compared to SOC. Intra-thecal Nusinersen was safe and tolerated well.

2024-12-01·Cellular and Molecular Neurobiology

Genetic Variability in Oxidative Stress, Inflammatory, and Neurodevelopmental Pathways: Impact on the Susceptibility and Course of Spinal Muscular Atrophy

Article

作者: Ravnik-Glavač, Metka ; Barbo, Maruša ; Blagus, Tanja ; Koritnik, Blaž ; Leonardis, Lea ; Dolžan, Vita

AbstractThe spinal muscular atrophy (SMA) phenotype strongly correlates with the SMN2 gene copy number. However, the severity and progression of the disease vary widely even among affected individuals with identical copy numbers. This study aimed to investigate the impact of genetic variability in oxidative stress, inflammatory, and neurodevelopmental pathways on SMA susceptibility and clinical progression. Genotyping for 31 genetic variants across 20 genes was conducted in 54 SMA patients and 163 healthy controls. Our results revealed associations between specific polymorphisms and SMA susceptibility, disease type, age at symptom onset, and motor and respiratory function. Notably, the TNF rs1800629 and BDNF rs6265 polymorphisms demonstrated a protective effect against SMA susceptibility, whereas the IL6 rs1800795 was associated with an increased risk. The polymorphisms CARD8 rs2043211 and BDNF rs6265 were associated with SMA type, while SOD2 rs4880, CAT rs1001179, and MIR146A rs2910164 were associated with age at onset of symptoms after adjustment for clinical parameters. In addition, GPX1 rs1050450 and HMOX1 rs2071747 were associated with motor function scores and lung function scores, while MIR146A rs2910164, NOTCH rs367398 SNPs, and GSTM1 deletion were associated with motor and upper limb function scores, and BDNF rs6265 was associated with lung function scores after adjustment. These findings emphasize the potential of genetic variability in oxidative stress, inflammatory processes, and neurodevelopmental pathways to elucidate the complex course of SMA. Further exploration of these pathways offers a promising avenue for developing personalized therapeutic strategies for SMA patients.

2024-12-01·Genetics in Medicine

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

Article

作者: Perić, Stojan ; Stafki, Seth A ; Bönnemann, Carsten G ; Weisburd, Ben ; Donkervoort, Sandra ; Haliloğlu, Göknur ; Folland, Chiara ; O'Leary, Melanie ; Scott, Hamish S ; Ganesh, Vijay S ; Udd, Bjarne ; Õunap, Katrin ; Ravenscroft, Gianina ; Lochmüller, Hanns ; Fahmy, Nagia ; Kang, Peter B ; Laing, Nigel ; Horakova, Magda ; Pata, Villem ; Pajusalu, Sander ; O'Heir, Emily ; Osei-Owusu, Ikeoluwa ; Manoj, Rajanna ; Austin-Tse, Christina ; Töpf, Ana ; Nalini, Atchayaram ; Łusakowska, Anna ; Horvath, Rita ; Pais, Lynn ; Straub, Volker ; Tiao, Grace ; Herguner, Ozlem ; O'Donnell-Luria, Anne ; Reimand, Tiia ; Rehm, Heidi L ; Daugherty, Audrey L ; Polavarapu, Kiran ; Sharma, Rakshya ; Karcagi, Veronika

PURPOSEWe set out to develop a publicly available tool that could accurately diagnose spinal muscular atrophy (SMA) in exome, genome or panel sequencing datasets aligned to a GRCh37, GRCh38, or T2T reference genome.METHODSThe SMA Finder algorithm detects the most common genetic causes of SMA by evaluating reads that overlap the c.840 position of the SMN1 and SMN2 paralogs. It uses these reads to determine whether an individual most likely has zero functional copies of SMN1.RESULTSWe developed SMA Finder and evaluated it on 16,626 exomes and 3,911 genomes from the Broad Institute Center for Mendelian Genomics, 1,157 exomes and 8,762 panel samples from Tartu University Hospital, and 198,868 exomes and 198,868 genomes from the UK Biobank. SMA Finder's false positive rate was below 1 in 200,000 samples, its positive predictive value was greater than 96%, and its true positive rate was 29 out of 29. Most of these SMA diagnoses had initially been clinically misdiagnosed as Limb-girdle muscular dystrophy (LGMD).CONCLUSIONOur extensive evaluation of SMA Finder on exome, genome and panel sequencing samples found it to have nearly 100% accuracy and demonstrated its ability to reduce diagnostic delays, particularly in individuals with milder subtypes of SMA. Given this accuracy, the common misdiagnoses identified here, the widespread availability of clinical confirmatory testing for SMA, as well as the existence of treatment options, we propose that it is time to add SMN1 to the ACMG list of genes with reportable secondary findings after genome and exome sequencing.

153

项与 SMN2 相关的新闻（医药）

2025-01-13

·CPHI制药在线

首仿之争大幕拉开，这一罕见病领域还有哪些创新药物值得期待？

关注并星标CPHI制药在线近日，CDE官网显示，齐鲁制药的诺西那生钠（nusinersen，商品名：Spinraza）注射液申报上市，成为国内第2款递交上市申请的诺西那生钠仿制药。诺西那生钠迎来首仿之争 2021年，一则"西安幼儿4天医疗费55万元"的新闻冲上热搜，患儿所患疾病即为脊髓性肌肉萎缩症（SMA），被网友称之为"天价医疗费"的主角即为诺西那生钠，彼时国内定价为55万元一针。诺西那生钠之所以价格如此昂贵，与SMA患者群体规模偏小有关。SMA是一种由基因突变所导致的罕见遗传病，在新生儿中的发病率为1/6000-1/10000，是导致婴儿死亡的主要遗传原因。 SMA的具体致病机理与体内的SMN1基因和SMN2基因突变有关。正常的SMN1基因编码运动神经元生存蛋白（SMN蛋白）。SMN1基因发生突变后，体内则不能产生正常的SMN蛋白，导致运动神经元丧失和进行性退化。虽然SMN2基因也能编码SMN蛋白，但其转录产物是不稳定的，无法发挥完整SMN蛋白的正常生理作用。临床上将SMA分为5个类型：0型（常于出生1个月内死亡）以及I～Ⅳ型，其中I～Ⅲ型均起病于儿童期，Ⅳ型是成人期起病的SMA。通常来说，I型患者不能独坐；Ⅱ型患者能独坐，但无法独站或行走；Ⅲ、IV型患者也许可以独立行走，但随着时间推移可能会逐渐丧失这些能力。很长时间以来，对于SMA的治疗，以支持性护理为主，预后黯淡。近年来，针对SMA的致病原因，通过产生更多SMN蛋白来治疗疾病的疗法开始进入市场，诺西那生钠便是其中一个。诺西那生钠是渤健研发的一款反义寡核苷酸（ASO）药物，可选择性地与mRNA结合，从而影响RNA翻译启动或改变外显子剪接。诺西那生钠通过增加SMN2基因外显子7的翻译剪接，上调全长SMN蛋白的表达。在一项针对121名患者开展的临床试验中，40%接受诺西那生治疗的患者都有显著改善，而未接受药物治疗的对照组这一数字为0。基于该研究结果，2016年，诺西那生钠获FDA批准上市，成为全球首款治疗SMA的药物。2019年4月，诺西那生在中国获批上市，定价高达70万/针。虽然后来价格有所降低，仍然在50万元以上。 2021年，国家医保局开展的"灵魂砍价"谈判，将诺西那生钠降至3.3万元/针，成功进入国家医保目录，大大提高了SMA患者的可及性和可支付性。进入医保目录后，诺西那生钠实现了放量增长，在国内公立医疗机构终端，该药的销售额在2022年涨至接近6亿元。为了提高患者用药的可及性，2022年10月，国家药监局发布关于《仿制药参比制剂目录（第六十一批）》的通告，将诺西那生钠注射液列入了参比制剂目录。在这一政策指引下，2024年9月，重庆药友制药按注册分类4类递交了诺西那生钠注射液仿制药的上市申请，未来，齐鲁制药将与其争国内首仿。多点开花，SMA治疗迎来收获期目前，SMA治疗领域共有三款药物获批上市。除诺西那生钠外，还有罗氏的利司扑兰（Evrysdi）和诺华的Zolgensma。利司扑兰是一款针对SMN2基因的剪接调节剂，通过双位点特异性调控SMN2基因的mRNA剪接，增加功能性SMN蛋白的表达。 2020年，利司扑兰获FDA批准上市，成为首个靶向RNA的小分子。2021年，利司扑兰于2021年在国内获批上市，用于治疗2月龄及以上SMA患者。2023年6月，利司扑兰再次获NMPA批准，将适用人群拓展至16日龄及以上的SMA患者。利司扑兰于2023年3月进入国家医保，价格从6.38万/瓶降至3780元/瓶。诺华的Zolgensma则是一款针对SMA病因的腺相关病毒载体（AAV）基因疗法，2019年5月，Zolgensma获FDA批准上市，成为全球首款治疗SMA的基因治疗药物。 Zolgensma采用AAV9作为载体，利用病毒表面的外壳能结合细胞表面的半乳糖，使得AAV9能穿过血脑屏障，透过血脑屏障把含有SMN基因的AAV9载体递送至中枢神经系统运动神经元，通过替换缺失或不起作用的SMN1基因的功能，来直接解决疾病的遗传根源。其通过单次一次性静脉输注，即可持续表达SMN蛋白，实现SMA患者的长期缓解甚至治愈。由于仅需一次治疗，Zolgensma定价高昂，目前定价为212.5万美元/针。Zolgensma已在超过50个国家/地区获批，但在中国还未获得批准。尽管SMA治疗已取得重大突破，但仍存在巨大的未满足需求，国内已有多家药企在该赛道布局，进展较快的有嘉因生物的EXG001-307以及九天生物的SKG0201等。这两款药物均为AAV基因治疗药物，但设计有所不同。EXG001-307是国内首个获批进入注册性临床试验的SMA基因疗法。其作用机制和用法均与Zolgensma相似，在此基础上，嘉因生物采用了创新设计，旨在降低以AAV为载体的基因疗法给患儿心脏及肝脏带来的副作用。 SKG0201创新设计的载体由独特的中枢神经特异性启动子调控、密码子全面优化的人源SMN1 cDNA构成。这一创新设计可实现更好的组织靶向性，使正常的SMN1基因导入体内后即在中枢神经区域实现最大治疗效果，达到在低剂量下即可快速恢复正常的SMN蛋白在运动神经元中的表达的目的。SKG0201于2023年12月获国家药监局批准开展临床试验。目前SMA治疗已集齐了鞘内注射药物诺西那生钠，一次性给药基因治疗药物Zolgensma，以及口服小分子药物利司扑兰。下一个创新治疗药物将会是谁，我们拭目以待。主要参考资料： 1.https://www.mdaconference.org/abstracts/2024-abstract-library/?_title=%20Zolgensma 2.https://www.zolgensma-hcp.com/clinical-experiences/start-trial-efficacy/ 3.https://www.researchandmarkets.com/reports/4808538/global-gene-therapy-market-size-share-and-trends#src-pos-5 END 【智药研习社近期直播】来源：CPHI制药在线声明：本文仅代表作者观点，并不代表制药在线立场。本网站内容仅出于传递更多信息之目的。如需转载，请务必注明文章来源和作者。投稿邮箱：Kelly.Xiao@imsinoexpo.com ▼更多制药资讯，请关注CPHI制药在线▼ 点击阅读原文，进入智药研习社

寡核苷酸信使RNA上市批准申请上市

2025-01-04

·梅斯医学

出生1个月确诊罕见病，关注脊髓性肌萎缩症

近日，一位妈妈在社交媒体上分享了儿子患罕见病SMA后康复治疗的系列视频，视频中称孩子1个月时确诊了SMA，经过几次治疗后，终于在1岁7个月时学会了爬，现在正在跌跌撞撞地学习走路。视频在网上传播后，引起了许多网友脊髓性肌萎缩症（SMA）的关注。脊髓性肌萎缩症（SMA）是一种常染色体隐性遗传的神经肌肉疾病，主要是运动神经元存活基因1（SMN1）突变导致的脊髓前角α-运动神经元退化变性，以严重的肌无力和肌萎缩为主要临床特征。我国SMA致病变异的总体携带率为1.2%~2.2%，发生出生缺陷的风险大。 SMA的病因 SMN1基因突变可导致上述所有类型的脊髓性肌萎缩症。SMN2基因的拷贝数可改变病情的严重程度，并有助于确定发展成哪种类型。 SMN1和SMN2基因均提供制造一种称为存活运动神经元 (SMN) 蛋白的蛋白质的指令。通常，大多数功能性 SMN 蛋白由 SMN1 基因产生，少量由SMN2基因产生。SMN2 基因产生几种不同版本的 SMN 蛋白，但只有一种版本具有功能性；其他版本较小且很快分解。SMN 蛋白是一组称为 SMN 复合物的蛋白质之一，对运动神经元的维持很重要。运动神经元从大脑和脊髓传递信号，告诉骨骼肌紧张（收缩），从而使身体能够运动。大多数脊髓性肌萎缩症患者都缺少SMN1基因的一部分，这会损害 SMN 蛋白质的产生。SMN 蛋白质的缺乏会导致运动神经元死亡，结果导致大脑和肌肉之间无法传递信号。如果没有大脑信号，肌肉就无法收缩，因此许多骨骼肌会变得虚弱并萎缩，从而导致脊髓性肌萎缩症的体征和症状。通常，人们的每个细胞中都有两个SMN1基因拷贝和一到两个SMN2基因拷贝。但是， SMN2基因拷贝数各不相同，有些人有多达八个拷贝。对于脊髓性肌萎缩症患者来说，拥有多个SMN2基因拷贝通常与以后生活中出现的不太严重的疾病特征有关。SMN2基因产生的 SMN 蛋白可以帮助弥补 SMN1 基因突变引起的蛋白质缺乏。0型脊髓性肌萎缩症患者的每个细胞通常都有一个 SMN2 基因拷贝，而I 型患者通常有一个或两个拷贝，II 型患者通常有三个拷贝，III 型患者有三个或四个拷贝，IV 型患者有四个或更多拷贝。其他因素（许多未知）也会导致脊髓性肌萎缩症的严重程度不一。 SMA的分型 SMA的诊断 1、临床表现主要表现为进行性、对称性肢体近端为主的肌无力，下肢重于上肢，体格检查可见肌肉震颤。 2、辅助检查血清学检查可见肌酸激酶值正常或轻度升高，肌电图提示广泛神经源性损害。 3、基因诊断基因检测显示SMN1第7号外显子纯合缺失突变或双等位突变，阳性结果可确诊SMA。 4、鉴别诊断当患者临床考虑SMA但基因检测未见SMN1双等位基因致病变异，或临床症状不典型，或伴有非SMA临床表现时，需要和以肌无力为主要表现的其他疾病进行鉴别诊断。如6个月以下患儿需鉴别其他软婴综合征，6个月以上的患儿需要鉴别其他神经肌肉病。常选择二代测序技术用于鉴别诊断。 SMA的治疗 1、常规治疗：联合多学科、多专业对患者进行全面系统的评估，制定合理的个性化的对症处理和康复等治疗方案。 2、基因治疗：近年来SMA的基因治疗领域取得了较大的进展，包括利用非复制型腺相关病毒9型作为载体，将正确的SMN1基因引入神经元细胞以产生全长SMN蛋白的治疗药物OAV101注射液。 3、作用于SMN2基因的基因修饰治疗：反义寡核苷酸药物诺西那生钠注射液和口服小分子剪接修饰剂利司扑兰口服溶液用散等。 4、未来潜在治疗方法：包括其他SMN修饰基因、第三代反义寡核苷酸、神经保护药物、肌肉激活药物和干细胞治疗等。 SMA的三级预防参考文献：脊髓性肌萎缩症中国三级预防指南撰文 | 梅斯医学综合整理编辑 | 阿拉斯加宝 ● 震撼！骨科突然不吃香了，连护士都嫌弃！骨科医生：主任说我没赶上好时候，以前干几年就能财富自由！年薪制下，医生认为中医科利润最大！ ● 教训！给熟人做手术，却被索赔20万！还有因给熟人开一盒抗生素被索赔50万！BMJ：熟人看病事故多，还敢吗 ● 颠覆！因啪啪啪而致命的风险大增？27种病毒竟隐藏在精液中，其中一种在精液的“潜伏”时间接近3年！版权说明：梅斯医学（MedSci）是国内领先的医学科研与学术服务平台，致力于医疗质量的改进，为临床实践提供智慧、精准的决策支持，让医生与患者受益。欢迎个人转发至朋友圈，谢绝媒体或机构未经授权以任何形式转载至其他平台。点击下方「阅读原文」立刻下载梅斯医学APP！

孤儿药

2025-01-03

·医药魔方Info

齐鲁制药「诺西那生钠」仿制药申报上市

1月3日，CDE网站显示，齐鲁制药的诺西那生钠注射液申报上市。这是第2款递交上市申请的诺西那生钠仿制药。原研诺西那生（商品名：Spinraza）是渤健自Ionis Pharmaceuticals引进的一款靶向运动神经元生存蛋白2（SMN2）的反义疗法。2016年12月，诺西那生钠注射液首次在美国获批上市，是FDA批准的第一款用于治疗脊髓性肌萎缩症（SMA）的药物。2019年2月，诺西那生钠注射液在中国获批上市。自上市以来，诺西那生钠注射液的全球销售额一路走高，并在2019年到达峰值（20.97亿美元）。2019年5月，诺西那生钠注射液迎来了第一位竞争对手——SMN1基因疗法onasemnogene abeparvovec（商品名：Zolgensma，诺华）在美国获批上市。2020年，罗氏推出利司扑兰（商品名：Evrysdi），SMA领域形成三足鼎立之势。截至目前，SMA领域仍然只有这三款靶向治疗药物上市。虽然Zolgensma和Evrysdi的问世削弱了Spinraza的市场地位，但这款药物在2023年还是为渤健创造了17.41亿美元的收入，仍然是目前销售表现最好的SMA药物。 Spinraza的售价曾经是行业内的热门话题。上市之初，渤健将Spinraza的美国价格定为12.5万美元/瓶，其进入中国市场后的最初定价为69.97万元/瓶，被称为“天价”罕见病药物。经过医保谈判后，Spinraza的中国售价降低至3.3万元/瓶，大大减轻了患者的治疗费用负担。根据登记信息，诺西那生的中国核心专利将在2030年到期。在齐鲁制药之前，药友制药已率先在2024年9月递交了诺西那生钠注射液仿制药的上市申请。若是这两款仿制药能够顺利获批上市，患者的负担将进一步减轻。 Copyright © 2025 PHARMCUBE. All Rights Reserved. 欢迎转发分享及合理引用，引用时请在显要位置标明文章来源；如需转载，请给微信公众号后台留言或发送消息，并注明公众号名称及ID。免责申明：本微信文章中的信息仅供一般参考之用，不可直接作为决策内容，医药魔方不对任何主体因使用本文内容而导致的任何损失承担责任。

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