Hirayama Masatoshi, Hatou Shin, Nomura Masaki, Hokama Risa, Hirayama Osama Ibrahim, Inagaki Emi, Aso Kumi, Sayano Tomoko, Dohi Hiromi, Hanatani Tadaaki, Takasu Naoko, Okano Hideyuki, Negishi Kazuno, Shimmura Shigeto
Department of Ophthalmology, Keio University School of Medicine, Shinjuku-ku 160-8582, Tokyo, Japan.
Department of Ophthalmology, Keio University School of Medicine, Shinjuku-ku 160-8582, Tokyo, Japan; Cellusion Inc., Chuo-ku, Tokyo 103-0024, Japan.
Cell Rep Med. 2025 Jan 21;6(1):101847. doi: 10.1016/j.xcrm.2024.101847. Epub 2025 Jan 13.
A first-in-human investigator-initiated clinical study of a corneal endothelial cell substitute (CLS001) derived from a clinical-grade induced pluripotent stem cell (iPSC) line shows improvement of visual acuity and corneal stromal edema, with no adverse events for up to 1 year after surgery for the treatment of bullous keratopathy. While preclinical tests, including multiple whole-genome analysis and tumorigenicity tests adhering to the Food and Drug Administration (FDA) draft guidelines, are negative, an additional whole-genome analysis conducted on transplanted CLS001 cells reveals a de novo in-frame deletion of exon22 in the EP300 gene. No adverse events related to the mutation are observed. Our study demonstrates the feasibility of using iPSC-derived cells to replace donor transplant for bullous keratopathy, while shedding light on risk management of gene mutation in cell products. Further follow-up is required for long-term analysis of clinical safety and efficacy.
一项由研究者发起的首例人体临床研究,针对源自临床级诱导多能干细胞(iPSC)系的角膜内皮细胞替代物(CLS001)展开,研究显示,在治疗大泡性角膜病变时,视力和角膜基质水肿得到改善,术后长达1年无不良事件发生。尽管包括多次全基因组分析和符合美国食品药品监督管理局(FDA)草案指南的致瘤性测试在内的临床前测试结果均为阴性,但对移植的CLS001细胞进行的额外全基因组分析显示,EP300基因的外显子22发生了从头框内缺失。未观察到与该突变相关的不良事件。我们的研究证明了使用iPSC衍生细胞替代供体移植治疗大泡性角膜病变的可行性,同时也为细胞产品中基因突变的风险管理提供了线索。需要进一步随访以对临床安全性和疗效进行长期分析。