2023年确诊罕见遗传病Snijders Blok-Campeau综合征的6岁女孩，于2025年3月24日在上海新华医院接受全球首例脑靶向碱基编辑治疗[1]。术后3天出现发热等严重症状，约一周后因血栓性微血管病死亡[1]。医院伦理委员会认定死亡与治疗有关[1]。
该案例暴露了医学创新过程中的多重缺陷。前期动物实验存在不足，猕猴毒理实验直至2025年2月17日才完成[1]，而伦理委员会却在2025年1月2日已批准该临床试验[1]。此外，患者家属为治疗筹措了约86万美元（约合人民币582万元）资金[1]，期间存在收费违规问题。2026年2月18日发表的相关论文未披露患儿死亡事实以及动物实验中猴子肝肾损伤等关键信息[1]，信息披露不完全引发深刻担忧。
这一事件触发了监管层面的应对。《生物医学新技术临床研究和临床转化应用管理条例》已定于2026年5月1日起施行[1]，旨在加强对医学创新的伦理监管。
A six-year-old girl who was diagnosed with Snijders Blok-Campeau syndrome, a rare genetic disorder, in March 2023 underwent the world's first brain-targeted base editing treatment at Shanghai Xinhua Hospital on March 24, 2025 [1]. The procedure was developed by a team led by Qiu Zilong at Shanghai Jiao Tong University School of Medicine [1]. Within three days of the treatment, the girl developed severe symptoms including fever, and she died approximately one week later, around early April 2025 [1]. The hospital's ethics committee determined that the death was causally related to the treatment [1]. The cause of death was identified as thrombotic microangiopathy [1].
The case has exposed significant gaps in the clinical trial process. The ethics committee had approved the trial on January 2, 2025 [1], and toxicology experiments in macaques were completed on February 17, 2025 [1], raising questions about whether animal testing was sufficiently rigorous before human application. The patient's family raised approximately 860,000 US dollars (about 5.82 million yuan) to fund the experimental treatment [1]. When a research paper about the treatment was published on February 18, 2026, it did not disclose the patient's death or liver and kidney damage observed in the macaque experiments [1]. These omissions have sparked broader concerns about transparency in medical innovation and the adequacy of current regulatory frameworks. In response to such incidents, new regulations—the Regulations on Clinical Research and Clinical Transformation and Application of Biomedical New Technologies—are set to take effect on May 1, 2026 [1].
