Riluzole

7月11日，由意大利帕多瓦大学联合李氏大药厂控股有限公司（简称“李氏大药厂”或“集团”，股份编号：00950）共同发起的跨国教育项目——2025年ALS病例魔方会议第3期：“快速进展型ALS”在线成功举办。本期会议特邀北京协和医院崔丽英教授作为特邀嘉宾，武汉大学人民医院卢祖能教授担任中方主席，意大利巴里大学Giancarlo Logroscino教授担任欧方主席，武汉大学人民医院丁曼教授、意大利巴里大学Alessia Giugno博士担任会议讲者，各位专家共同就快速进展型ALS诊断与治疗相关临床经验进行交流和探讨。会议主席致辞会议伊始，特邀嘉宾崔丽英教授致开场词，今天将会有两例疑难的ALS病例与大家分享讨论，对大家来说是一次宝贵的学习机会，很期待后续的病例分享与讨论环节。  中方主席卢祖能教授致开场词，卢教授表示荣幸邀请到崔教授与Logroscino教授共同探讨快速进展型的ALS病例，希望本次讨论能帮助我们更好的认识特殊类型的ALS。能有这样的机会与欧洲学者进行学术交流。意方主席Logroscino教授致开场词，Logroscino教授表示很高兴再次见到崔教授，通过本系列会议可以很好的促进中意双方在ALS方面的研究进步，期待今天带来的病例讨论，相信今天的病例会给我们带来非常大的启发。学术交流01武汉大学人民医院 丁曼 教授：特殊ALS病例分享中方讲者丁曼教授分享了二例特殊的ALS病例。病例1是一例面肌萎缩起病的家族性ALS，为32岁女性，以“面肌萎缩”首发起病，属SOD1突变阳性的家族性ALS。患者2017年3月先出现右侧眼睑闭合不全、鼻唇沟变浅及口角下垂，继之右侧肢体肉跳；4月感左侧面肌无力。7月初自觉全身肉跳明显，说话声音变小，轻度气短。肌电图呈广泛神经源性损害。此后3个月内病情迅速进展：8月出现双下肢无力、构音障碍及吞咽费力；10月双下肢肌力降至1-2级，夜间需无创呼吸机辅助；11月吞咽困难加重，停用利鲁唑；12月行经皮胃造瘘及气管切开，机械通气维持。最终于2018年3月因呼吸衰竭去世，总病程约13个月。病例2是一例恶异质起病的ALS，为64岁女性，以“恶异质”为首发表现。患者在2年内体重下降18.5 kg，伴乏力、心慌、胃部不适，但无肌跳。8个月后逐渐出现声嘶、饮水呛咳及吞咽困难，先后辗转消化、肿瘤、血液、呼吸等科室。院查体可见舌肌萎缩及纤颤、唇反射阳性，四肢腱反射亢进，双Hoffmann征及踝阵挛阳性，提示上下运动神经元同时受累。肌电图示广泛神经源性损害，确诊ALS。入院仅半月即因急性呼吸衰竭行气管切开，随后迅速死亡，总病程约2.5年。该例以不明原因的恶病质为首发，体重下降远早于经典运动症状，符合文献报道的“恶异质型”罕见表型，极易误诊。两例患者均体现了ALS的高度异质性：第一例展示了家族性ALS中面肌首先受累的特殊轨迹，提示临床对年轻患者需关注遗传背景；第二例则强调恶异质、吞咽障碍等非运动症状可成为疾病早期信号[1]，对老年患者应警惕“隐匿起病”的可能。两例均在短期内进展至呼吸衰竭，提示无论何种表型，早期识别、及时评估通气需求及多学科管理仍是改善生存质量的关键。02巴里大学Alessia Giugno博士：快速进展的肌萎缩侧索硬化症意方讲者Alessia Giugno博士分享了一例患者为70岁男性，既往仅有高血压，母亲70岁时曾出现未分型的神经认知障碍，家族史提示潜在的遗传易感性。2022年2月，患者以双侧上肢远端对称性无力及消瘦起病。初诊时ALSFRS-r评分41/48，King分期2B，符合“连枷臂综合征”的经典描述——即上肢近端对称性肌萎缩、下肢和球部功能相对保留。中心对患者进行了系统性评估：3T脑MRI显示轻-中度全脑皮层萎缩及颞叶内侧萎缩2级，排除结构性病变；脑脊液神经丝轻链（NFL）显著升高（CSF 12512 pg/ml，血浆340 pg/ml），提示轴突损伤；电生理检查证实双上肢中央传导时间延长，符合El Escorial修订标准的“确诊ALS”。值得注意的是，基因学未检出SOD1、C9orf72等已知致病突变，提示表型-基因型异质性。确诊后仅6个月，患者即出现下肢中度无力（MRC 3/5）及明显萎缩，肺活量骤降至37%，夜间需无创通气；8个月时因呼吸衰竭死亡，总生存期仅10个月。回顾该患者脑脊液标志物检查，NFL12512 pg/ml，有研究显示[2]，NFL水平每升高1000 ng/L，全身化时间缩短2.8个月，该病例进一步验证了该生物标志物对快速进展的预测价值。总结：神经生理学评估对于检测和区分连枷臂综合征（FA-ALS）与类ALS综合征非常有用。ALS患者的基因分型通常会显著影响预后[3]。该病例进一步证实了神经丝轻链蛋白（NFL）作为ALS预后指标的作用。会议主席总结致词最后，崔丽英教授、卢祖能教授、Logroscino教授对病例做出了点评与总结，三位教授表示，在ALS的诊治中，NFL是一个非常重要的指标，它能够帮助了解患者神经轴损伤的情况，并且已经得到证实为一个重要的预后影响因素。随着医疗技术发展，此类基因标志物的检查将会不断普及，希望未来可以不需要昂贵的价格就能让患者在随访中得到相应的检查。另外，BMI指数于ALS患者的疾病进展、预后显著相关，可作为一个疾病的预后预测指标，对于BMI快速下降的患者，一般鼓励患者进行高营养高热量饮食。本次会议的三个病例非常精彩，非常值得讨论，非常感谢各位专家的经验分享，很期待可以在下一期会议中与大家继续在线上相会，未来能有更多机会交流探讨。  参考文献：[1] Van Es M A, Hardiman O, Chio A, et al. Amyotrophic lateral sclerosis[J]. The Lancet, 2017, 390(10107): 2084-2098.[2] R,Tortelli,M,et al. Cerebrospinal fluid neurofilament light chain levels: marker of progression to generalized amyotrophic lateral sclerosis[J]. European Journal of Neurology, 2014[3] Witzel S, Wagner M, Zhao C, et al. Fast versus slow disease progression in amyotrophic lateral sclerosis–clinical and genetic factors at the edges of the survival spectrum[J]. Neurobiology of aging, 2022, 119: 117-126.下滑查看更多关于李氏大药厂- 亞太地區最具創新力的上市企業 -李氏大药厂控股有限公司（简称“李氏大药厂”或“集团”, 股份编号: 00950）成立于1994年，是一家结合了研发驱动和市场导向的生物医药集团公司，总部位于香港。李氏大药厂于2002年7月在香港联合交易所（简称：“港交所”）创业板上市，并于2010年5月成功转至港交所主板上市。李氏大药厂在中国大陆拥有两大综合性生产研发基地，即：兆科合肥基地（位于安徽省合肥市高新区）和兆科广州基地（位于广东省广州市南沙区），目前员工总数超过1100人。李氏大药厂立足中国大陆，放眼国际，通过坚实和稳固的投入建设，全面覆盖整合了药物研发、临床研究、药政注册、生产制造、销售与市场推广等各个环节。集团集中于心血管科、妇科与产科、儿科、罕见病、肿瘤科、皮肤科、精神科等多个重要疾病领域开发不同阶段的专利新药和高端仿制药。李氏大药厂与20余家国际公司建立了广泛的合作关系，目前在中国大陆、香港、澳门及台湾地区推广及销售25种包含专利新药、仿制药物及授权引进的国外已上市进口药品。李氏大药厂现有超过40个处于不同开发阶段的产品，既有自主研发产品，也有通过来自美国、欧洲及日本等公司通过授权引进进行研发、生产以及商业化的产品。李氏大药厂的使命是通过提供治疗各种疾病的创新产品，以改善患者健康及提高生活质量，成为亚洲一家成功的生物医药集团。下滑查看更多免责声明：本会议报道仅限医学专业人士学术交流，不涉及任何药品推广，不作为诊疗依据。因本报道全部或任何部分内容而产生或因倚赖该等内容而引致的任何损失不承担任何责任。撰稿：卫禛排版：黄文浩 校稿：樊扬波审核：张超与“李”同行招商热线020-39062882公众号小程序视频号小红书

ALS treatment is evolving from symptom management to disease-modifying strategies gene therapies, antisense drugs, & neuroprotective agents promise real impact ALS, once incurable, is seeing remarkable progress. With gene interventions and neuroprotective molecules entering late-stage trials, the vision of slowing or halting progression is closer than ever.” — DataM Intelligence AUSTIN, TX, UNITED STATES, July 2, 2025 / EINPresswire.com / -- Amyotrophic Lateral Sclerosis (ALS) , often known as Lou Gehrig’s disease, is a fatal neurodegenerative disorder that progressively destroys motor neurons, leading to paralysis and death. It remains one of the most complex and devastating neurological diseases, with a prognosis of just 2 to 5 years post-diagnosis for most patients. However, the landscape in 2025 reflects significant progress. With deeper genetic insights and a diversified therapeutic pipeline, ALS is transitioning from symptom management toward disease modification. Download CI Sample Report: https://www.datamintelligence.com/strategic-insights/ci/amyotrophic-lateral-sclerosis-als 🧬 Disease Overview ALS causes the degeneration of both upper and lower motor neurons, disrupting voluntary muscle activity. This leads to severe muscle wasting, difficulties in swallowing and breathing, and ultimately, respiratory failure. While about 90% of ALS cases are sporadic, the remaining 10% are familial, frequently linked to mutations in genes such as SOD1, C9orf72, TARDBP, and FUS. Diagnosis is typically clinical, supported by electromyography (EMG), nerve conduction studies, and exclusion of mimicking conditions. Biomarker development is ongoing, aiming to enable earlier diagnosis and patient stratification for clinical trials. 🌍 Epidemiology & Market Landscape Globally, ALS affects an estimated 2–5 people per 100,000, with an annual incidence of 1–2 per 100,000. The disease is more common in individuals aged 55–75 and is slightly more prevalent in men. Due to its high mortality and lack of curative therapies, ALS qualifies for orphan drug status in major markets. This regulatory incentive, combined with strong advocacy and rising R&D investment, is accelerating the therapeutic pipeline. The ALS treatment market, valued at around USD 2 billion in 2024, is projected to grow steadily with the entry of novel disease-modifying therapies over the next five years. 💊 Current Treatment Paradigm The current standard of care is limited to supportive and symptomatic therapies. These include: - Riluzole: Approved in 1995, it modestly extends survival by a few months by reducing glutamate-mediated excitotoxicity. - Edaravone: Approved in 2017, it acts as a free radical scavenger, slightly delaying functional decline in early-stage ALS. - Nuedexta: Although not approved specifically for ALS, it is commonly used to manage pseudobulbar affect (PBA), improving emotional stability. While helpful, these therapies do not halt or reverse the disease, highlighting a clear unmet need for disease-modifying approaches. Book Free CI Consultation Call: https://www.datamintelligence.com/strategic-insights/ci/amyotrophic-lateral-sclerosis-als 🔬 Pipeline Innovation and Competitive Momentum The ALS pipeline in 2025 is driven by a multi-pronged approach, including gene silencing, neuroprotection, immunomodulation, and cellular therapies. Key areas of innovation include: Gene-Targeted Therapies - Biogen’s Tofersen, an antisense oligonucleotide (ASO) targeting SOD1 mutations, has shown promise in reducing SOD1 protein levels and slowing disease progression in familial ALS. It represents the first real attempt at targeting a genetic driver in ALS with precision. - Another gene-targeted agent, BIIB100, is in early-phase trials to treat C9orf72-associated ALS, a common cause of familial and sporadic cases. These therapies are designed to address root-cause mutations and could revolutionize ALS management in genetically stratified patients. Neuroprotective and Combination Therapies - AMX0035, a fixed-dose combination of sodium phenylbutyrate and taurursodiol, showed significant survival benefit and slower functional decline in late-phase trials. With a favorable safety profile and oral administration, it’s emerging as a strong candidate for broad use across ALS populations. - Other agents in this class aim to support mitochondrial function, reduce ER stress, or modulate excitotoxicity-core mechanisms implicated in ALS pathogenesis. Immuno-inflammatory Modulators - Masitinib, a tyrosine kinase inhibitor, targets neuroinflammation and microglial activation. Now in Phase III, it could become the first oral immune-modulating agent with broad applicability in ALS if efficacy is confirmed. - Avonex (interferon-beta) and other repurposed immune therapies are being evaluated to address inflammatory aspects of ALS, particularly in patients showing elevated biomarkers of immune activation. Stem Cell and Cellular Approaches Stem cell infusions, particularly mesenchymal stem cells (MSCs), are under evaluation for their potential to protect or repair damaged motor neurons. These approaches remain experimental but are gaining attention for their regenerative promise. 🔍 Competitive Intelligence – Descriptive Landscape Tofersen is leading the field in genetically targeted therapy for SOD1-mutated ALS. Its ability to slow functional decline and reduce neurofilament biomarkers puts it ahead in terms of precision and biological targeting. In the broader ALS population, AMX0035 offers a disease-modifying option with strong survival data and ease of use. It stands out as the first combination therapy likely to gain global traction for sporadic ALS. Masitinib, still under evaluation, represents a promising oral option for patients with inflammatory phenotypes. Its oral route and broad immunologic targeting could position it as a foundational therapy if efficacy and tolerability are confirmed. Meanwhile, stem cell therapies and early-stage gene-editing solutions such as BIIB100 are advancing with hopes of establishing novel, durable interventions. These will likely serve as adjuncts or niche solutions depending on patient genotype and disease stage. 🎯 Target Opportunity Profile (TOP): What Success Looks Like For any new therapy to thrive in the ALS market, it must deliver across a range of clinical and strategic attributes: - Clinical Efficacy: Demonstrated improvement in survival and/or functional endpoints such as ALSFRS-R or time to tracheostomy. - Safety and Tolerability: Minimal systemic side effects, especially critical in a fragile patient population with reduced physiological reserve. - Mechanism Differentiation: Gene-targeted therapies should address known mutations; other candidates must tackle neuroinflammation, oxidative stress, or neuronal energy failure. - Ease of Administration: Oral or infrequent dosing regimens are preferred. Intrathecal administration may be acceptable for precision therapies like ASOs. - Payer & Access Considerations: Orphan status, cost-effectiveness, and robust real-world data will be vital for widespread adoption and reimbursement. - Patient Stratification: Success depends on biomarker-driven selection, especially for genetic or inflammatory subtype-specific therapies. Ask for Customized CI Service as per Your Business Requirement: https://www.datamintelligence.com/strategic-insights/ci/amyotrophic-lateral-sclerosis-als 🔮 Market Outlook: 2025 and Beyond The years ahead will witness critical inflection points: - Tofersen is expected to reshape treatment in genetically confirmed SOD1-ALS, catalyzing greater adoption of genetic testing. - AMX0035 will likely establish itself as the first broadly used disease-modifying therapy. - Masitinib may expand treatment choices for sporadic ALS if it confirms efficacy in ongoing trials. - Gene therapies and cell-based innovations will push the envelope toward true disease reversal or stabilization. ✅ Conclusion After decades of frustration, the ALS field is entering a breakthrough era. New therapies are moving beyond symptomatic support to targeting the underlying biology of the disease. From gene silencing to neuroprotection and immunomodulation, the coming years hold unprecedented potential to extend and improve lives. For patients, caregivers, and industry stakeholders, ALS is no longer a closed chapter-it’s a rapidly unfolding story of innovation. Read Related CI Reports: 1. Focal Segmental Glomerulosclerosis | Competitive Intelligence 2. Vitiligo | Competitive Intelligence Sai Kumar DataM Intelligence 4market Research LLP +1 877-441-4866 sai.k@datamintelligence.com Visit us on social media: LinkedIn X Legal Disclaimer: EIN Presswire provides this news content "as is" without warranty of any kind. We do not accept any responsibility or liability for the accuracy, content, images, videos, licenses, completeness, legality, or reliability of the information contained in this article. If you have any complaints or copyright issues related to this article, kindly contact the author above.