在囊性纤维化中使用CFTR调节器治疗胎儿的第一个现实研究:MODUL-CF研究报告
Anne-Sophie Bonnel1, Tiphaine Bihouée2, Mélanie Ribault3
1Centre de Référence Maladies rares, Mucoviscidose et maladies apparentées. Hôpital Necker Enfants Malades. Assistance Publique Hôpitaux de Paris. Paris. France; Cystic Fibrosis Center. Hôpital Mignot. Le Chesnay. France.
概括
在怀孕期间,变异特异性疗法 (VST) 有效治疗胎儿囊性纤维化 (CF) 相关的美结膜 (MI). 胎儿发育和新生儿结局都很好,观察到高的跨胎盘药物转移.
科学领域:
- 产周医学 产周医学
- 遗传学 是一个遗传学.
- 药理学 药理学是指药理学的学科.
背景情况:
- 囊性纤维化 (CF) 影响胎儿发育,特别是肠道并发症,如Meconium Ileus (MI).
- 在子宫变异特异疗法 (VST) 为胎儿CF提供了潜在的治疗途径.
- 评估VST有效性和安全性在孕妇二中至关重要.
研究的目的:
- 评估子宫内VST在治疗囊性纤维化 (CF) 的胎儿 (MI) 的疗效.
- 评估VST对胎儿发育和新生儿结果的潜在不良影响.
- 为了确定VST组件的跨胎盘药物转移.
主要方法:
- 招募了13名孕妇,她们携带着基因诊断为CF的胎儿,有资格接受VST.
- 在怀孕19-36周之间使用VST (Elexacaftor/Tezacaftor/Ivacaftor或Ivacaftor).
- 用MRI和超声波监测胎儿状态;测量VST药物度在带血液和母/婴血中.
主要成果:
- 在VST中,主要使用Elexacaftor/Tezacaftor/Ivacaftor (ETI),对12个二进行了治疗.
- 在6例中,ETI治疗后14天内发生了美结膜症 (MI) 的解决.
- 一个胎儿患有肠;胎儿发育和新生儿耐受性都很好. 在Elexacaftor,Ivacaftor和Tezacaftor中发现了高水平的胎盘转移.
结论:
- 在第三个三个月内给予ETI是有效的解决胎儿Meconium Ileus (MI).
- 发生了VST组件的显著的跨胎盘转移.
- 在VST启动期间,标准化胎儿监测至关重要,以确保耐受性.
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