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使用源自囊性纤维化患者的直肠类器官来描述 CFTR 调节剂药物的反应。

Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis.

机构信息

Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, 3584 EA Utrecht, Netherlands. Laboratory of Translational Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, 3584 EA Utrecht, Netherlands.

Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, 3584 EA Utrecht, Netherlands.

出版信息

Sci Transl Med. 2016 Jun 22;8(344):344ra84. doi: 10.1126/scitranslmed.aad8278.

Abstract

Identifying subjects with cystic fibrosis (CF) who may benefit from cystic fibrosis transmembrane conductance regulator (CFTR)-modulating drugs is time-consuming, costly, and especially challenging for individuals with rare uncharacterized CFTR mutations. We studied CFTR function and responses to two drugs-the prototypical CFTR potentiator VX-770 (ivacaftor/KALYDECO) and the CFTR corrector VX-809 (lumacaftor)-in organoid cultures derived from the rectal epithelia of subjects with CF, who expressed a broad range of CFTR mutations. We observed that CFTR residual function and responses to drug therapy depended on both the CFTR mutation and the genetic background of the subjects. In vitro drug responses in rectal organoids positively correlated with published outcome data from clinical trials with VX-809 and VX-770, allowing us to predict from preclinical data the potential for CF patients carrying rare CFTR mutations to respond to drug therapy. We demonstrated proof of principle by selecting two subjects expressing an uncharacterized rare CFTR genotype (G1249R/F508del) who showed clinical responses to treatment with ivacaftor and one subject (F508del/R347P) who showed a limited response to drug therapy both in vitro and in vivo. These data suggest that in vitro measurements of CFTR function in patient-derived rectal organoids may be useful for identifying subjects who would benefit from CFTR-correcting treatment, independent of their CFTR mutation.

摘要

鉴定可能从囊性纤维化跨膜电导调节因子(CFTR)调节剂药物中获益的囊性纤维化(CF)患者既耗时又昂贵,对于具有罕见且未表征的 CFTR 突变的个体尤其具有挑战性。我们研究了源自 CF 患者直肠上皮的类器官培养物中 CFTR 功能和对两种药物的反应,这两种药物是原型 CFTR 增强剂 VX-770(ivacaftor/KALYDECO)和 CFTR 校正剂 VX-809(lumacaftor)。我们观察到 CFTR 残余功能和对药物治疗的反应取决于 CFTR 突变和受试者的遗传背景。直肠类器官中的体外药物反应与 VX-809 和 VX-770 的临床试验的已发表结果数据呈正相关,这使我们能够根据临床前数据预测携带罕见 CFTR 突变的 CF 患者对药物治疗的潜在反应。我们通过选择两个表达未表征的罕见 CFTR 基因型(G1249R/F508del)的个体来证明原理,这两个个体对 ivacaftor 的治疗有临床反应,而另一个个体(F508del/R347P)在体外和体内对药物治疗的反应都有限。这些数据表明,源自患者的直肠类器官中 CFTR 功能的体外测量可能有助于识别从 CFTR 校正治疗中获益的患者,而与他们的 CFTR 突变无关。

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