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NICE推荐将诺华的Luxturna基因疗法用于治疗双等位RPE65突变引起的视力丧失

2019-09-05 不详 MedSci原创

NICELuxturna基因疗法双等位RPE65突变视力丧失
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英国国家健康与护理卓越研究所（NICE）已建议在NHS上使用诺华的Luxturna（voretigene neparvovec）用于治疗RPE65介导的遗传性视网膜营养不良。这类患者由双等位RPE65突变的遗传性视网膜营养不良引起的视力丧失，其具有足够的活视网膜细胞。

英国国家健康与护理卓越研究所（NICE）已建议在NHS上使用诺华的Luxturna（voretigene neparvovec）用于治疗RPE65介导的遗传性视网膜营养不良。这类患者由双等位RPE65突变的遗传性视网膜营养不良引起的视力丧失，其具有足够的活视网膜细胞。

Luxturna基因疗法是利用腺相关病毒（AAV）将RPE65基因直接引入到视网膜细胞中产生正常的RPE65酶，从而在具有足够数量存活视网膜细胞的儿童和成人患者中帮助恢复和改善视力。

诺华首席执行官Tina Houlihan评论说"对于RPE65基因两个拷贝中出现突变的患者，患者负担很高。这种罕见的遗传病的进步和衰弱性质给患者及其家人带来了终身的身体，情感和经济负担。"

"NICE对Luxturna的推荐标志着一个关键开始，因为这种情况下出生的儿童和成年人拥有了首个治疗方案。"

目前在英国，大约有180名患者在RPE65基因的两个拷贝中都有突变。

原始出处：


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    2019-09-28 仁心济世

    #PE#

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    2020-05-10 12498e67m36暂无昵称

    #Luxturna#

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    2019-09-07 nian.wang1982

    #诺华#

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    2019-09-07 fusion

    #NICE#

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    2019-09-07 shanyongle

    #视力丧失#

    0

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