[29] CA Chiriboga, et al. JEWELFISH: 24-month safety, pharmacodynamic and exploratory efficacy data in non-treatment-naïve patients with SMA receiving treatment with risdiplam. WMS 2022. P110. [30] Laurent Servais, ...
赛业生物采用两种策略构建了SMN2人源化基础品系,并通过繁育获得携带不同SMN2拷贝数的SMA小鼠模型。 ● Smn1hSMN2/hSMN2小鼠:将小鼠Smn1双拷贝基因原位替换为人类SMN2双拷贝,模拟携带2拷贝SMN2的SMA患者; ● ROSA26hSMN2/hSMN2小鼠:在小鼠ROSA26安全位点上插入双拷贝人源SMN2基因。 通过多代繁育,最终获得Smn1...
[1].Servais L, Baranello G, Boespflug-Tanguy O, et al. P.109 FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy (SMA). Presented at the 27th International Annual Congress of the World Muscle Society, Halifax, Canada, October 11-15, ...
8. Hamilton G and Gillingwater TH. Spinal muscular atrophy: going beyond the motor neuron. Trends Mol Med. 2013; 19:40-50. 9. Ratni Het al. Discovery of risdiplam, a selective survival motor neuron-2 (SMN2) genesplicing ...
In the STEER study, OAV101 IT demonstrated clinical benefit in treatment-naïve type II SMA patients ages 2-17, who were able to sit but had never walked independently. In addition, the safety profile of OAV101 IT was favorable, with overall adverse events and serious adverse events ...
对于1 型 SMA 患儿来说,使用利司扑兰:(1)可以达到全身获益,居家口服的使用方式在疫情防控大环境下对患儿更加方便安全;(2)对于 10 千克以内的儿童治疗费用较低;(3)若使用其他治疗方法出现不良反应/治疗效果不佳,或经济条件较好、想给患儿带来更好治疗效果的家庭,优选使用利司扑兰进行治疗。
由于SMA患者至少存在1个SMN2基因拷贝,因此,通过特异性反义寡核苷酸改变SMN2 pre-mRNA的剪接,使其能够翻译表达全长SMN蛋白,理论上适用于所有SMA患者。 诺西那生纳注射液 (Nusinersen sodium,商品名Spinraza)是首个经美国食品与药品管理局(FDA)和欧洲药物管理局(EMA)批准用于治疗SMA的反义寡核苷酸药物,并于2019年2...
Improvements in signs, symptoms and impacts of SMA after treatment will be reported.Conclusions: The symptoms and impacts of living with SMA as reported by 12 patients/caregivers provided insight related to meaningful treatment benefits experienced while receiving apitegromab during the TOPAZ trial, ...
如果检出SMN1基因7号外显子纯合缺失,可以确诊为脊肌萎缩症,分型需要依赖临床表现和疾病发展进行判断。如果检出患者存在2拷贝SMN1基因(定量PCR法),可基本排除脊肌萎缩症的诊断。 如果患者临床疑诊为脊肌萎缩症,而SMN1基因检测发现患者为杂合缺失,这时候首先建议对患者再次进行临床评估。如果临床症状符合脊肌萎缩症,肌电...
6. http://media.biogen.com/news-releases/news-release-details/us-fda-approves-biogens-spinrazatm-nusinersen-first-treatment 7. Al-Zaidy S, et al.(2019).Health outcomes in spinal muscular atrophy type 1 following AVXS-101gene replacement therapy. Pediatr Pulmonol.doi:10.1002/ppul.24203. ...