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关于<\/strong>I<\/strong>型神经纤维瘤病(<\/strong>NF1<\/strong>):<\/strong>NF1是由NF1基因或遗传突变引起累及多系统的遗传性疾病[11]<\/sup>,伴随多种症状,包括在皮肤外侧或内部形成神经纤维瘤和色素沉着(牛奶咖啡斑)等。其中,30-50%的NF1患者会伴发丛状神经纤维瘤[10],[12]<\/sup>。丛状神经纤维瘤(PN)可引起毁容、疼痛、运动及呼吸功能障碍、视力受损以及膀胱或肠道功能障碍等[11],[13],[14],[15]<\/sup>。丛状神经纤维瘤多发于出生期,严重程度各不相同,较普通人群,预期寿命可能会减少20年[11],[14],[16],[17]<\/sup>。<\/p> \n 关于司美替尼:<\/strong>司美替尼是中国国家药品监督管理局批准的首个也是唯一*一个用于治疗3岁及3岁以上伴有症状、无法手术的丛状神经纤维瘤(PN)的I型神经纤维瘤病(NF1)儿童患者的药物疗法[18]<\/sup>,可阻断参与促进细胞生长的特定酶(MEK1和MEK2)[16]<\/sup>。在NF1中,这些酶过度活跃,导致丛状神经纤维瘤以不受控制的方式生长。通过阻断特定酶,司美替尼可减缓病情[16]<\/sup>。司美替尼已在美国、欧盟、日本、中国获得批准,并在全世界多个国家和地区被认定为"孤儿药"。<\/p> \n *截至2023年12月<\/p> \n 关于阿斯利康和默沙东的战略合作:<\/strong>2017年7月,阿斯利康和默沙东宣布开展全球战略合作,共同推动奥拉帕利和司美替尼的开发和商业化。司美替尼是一种有丝分裂原活化蛋白激酶(MEK)抑制剂。双方将联合开发奥拉帕利和司美替尼与其他潜在的新药联合使用以及作为单一疗法使用。此外,两家公司还将独立进行奥拉帕利和司美替尼与其各自的PD-L1和PD-1药物联合使用的开发。<\/p> \n 关于瑞颂制药:<\/strong>瑞颂制药是阿斯利康罕见病业务子公司,2021年,阿斯利康收购瑞颂制药进军罕见病领域。深耕罕见病领域30多年,瑞颂制药致力于为罕见病患者及其家庭提供改变生命的药物。瑞颂制药的研发重点布局补体系统新型分子和靶点,关注血液、肾脏、中枢神经系统、代谢、心血管和眼科六大疾病领域。瑞颂制药总部设在马萨诸塞州的波士顿,并在全球各地设有办事处,惠及全球50多个国家的患者。<\/p> \n [1] 张抒扬.儿童罕见病诊疗与管理,2021.11:9 <\/p>"];
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<\/sup>[2] Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014;13:834-43. doi: 10.1016\/S1474-4422(14)70063-8.
<\/sup>[3] National Institute of Neurological Disorders and Stroke. Neurofibromatosis Fact Sheet. Available at: "What is NF1?" Available at: www.ninds.nih.gov\/disorders\/patient-caregiver-education\/fact-sheets\/neurofibromatosis-fact-sheet<\/a>. Last accessed: July 2022<\/span>.
<\/sup>[4] Gross AM, et al. Selumetinib in children with inoperable plexiform neurofibromas. N Engl J Med. 2020 Apr 9<\/span>;382(15):1430-1442. doi: 10.1056\/NEJMoa1912735.
<\/sup>[5] Dombi E, Baldwin A, Marcus LJ, et al. Activity of selumetinib in neurofibromatosis type 1-related plexiform neurofibromas. N Engl J Med. 2016;375:2550-2560. doi: 10.1056\/NEJMoa1605943.
<\/sup>[6] Mayo Clinic. Neurofibromatosis. Available at: https:\/\/www.mayoclinic.org\/diseases-conditions\/neurofibromatosis\/symptoms-causes\/syc-20350490<\/a>. Accessed July 2022<\/span>.
<\/sup>[7] NHS. Neurofibromatosis Type 1, Symptoms. Available at https:\/\/www.nhs.uk\/conditions\/neurofibromatosis-type-1\/symptoms<\/a>. Accessed July 2022<\/span>.
<\/sup>[8] National Institute of Neurological Disorders and Stroke. Neurofibromatosis Fact Sheet. Available at: "What is NF1?" Available at: www.ninds.nih.gov\/disorders\/patient-caregiver-education\/fact-sheets\/neurofibromatosis-fact-sheet<\/a>. Last accessed: July 2022<\/span>.
<\/sup>[9] Evans DGR, Ingham SL. Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors. Appl Clin Genet. 2013;6:53-61.
<\/sup>[10] Masocco M et al. Orphanet J Rare Dis. 2011;6:11.
<\/sup>[11] National Institute of Neurological Disorders and Stroke. Neurofibromatosis Fact Sheet. Available at: "What is NF1?" Available at: www.ninds.nih.gov\/disorders\/patient-caregiver-education\/fact-sheets\/neurofibromatosis-fact-sheet<\/a>. Last accessed: July 2022<\/span>.
<\/sup>[12] Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014;13:834-43. doi: 10.1016\/S1474-4422(14)70063-8.
<\/sup>[13] Gross AM, et al. Selumetinib in children with inoperable plexiform neurofibromas. N Engl J Med. 2020 Apr 9<\/span>;382(15):1430-1442. doi: 10.1056\/NEJMoa1912735.
<\/sup>[14] Dombi E, Baldwin A, Marcus LJ, et al. Activity of selumetinib in neurofibromatosis type 1-related plexiform neurofibromas. N Engl J Med. 2016;375:2550-2560. doi: 10.1056\/NEJMoa1605943.
<\/sup>[15] NHS. Neurofibromatosis Type 1, Symptoms. Available at https:\/\/www.nhs.uk\/conditions\/neurofibromatosis-type-1\/symptoms<\/a>. Accessed July 2022<\/span>.
<\/sup>[16] Evans DGR, Ingham SL. Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors. Appl Clin Genet. 2013;6:53-61.
<\/sup>[17] Masocco M et al. Orphanet J Rare Dis. 2011;6:11.
<\/sup>[18] Koselugo (selumetinib) Chinese prescribing information; 2023.<\/sup><\/p> \n