Qin Xuzhen, Li Huan, Zhao Huiying, Xiang Kuanhui, Liu Shihui, Lou Ruolin, Liu Peng, Dai Yi, Wang Chuanxin, Zhang Shuyang
Department of Laboratory Medicine, The Second Hospital of Shandong University, Ji'nan, China.
Department of Laboratory Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College Hospital, Beijing, China.
Hum Gene Ther. 2024 Dec;35(23-24):969-977. doi: 10.1089/hum.2024.079. Epub 2024 Nov 28.
To facilitate adeno-associated virus (AAV)-mediated gene therapy in China, we conducted a study on the distribution of AAV-neutralizing antibodies (NAbs) in healthy subjects and in patients with Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD). A total of 352 healthy adult controls (ACs) from a national multicenter study, 100 schoolchild controls (SCs), and 281 patients with DMD/BMD from Peking Union Medical College Hospital were enrolled in this study. Cell-based inhibition assays were applied, and serum samples demonstrating 50% inhibition of infection were considered positive. The seroprevalence of AAV2 and AAV9 NAbs among the 733 participants was 86.1% and 56.3%, respectively. The AAV2 NAbs and AAV9 NAbs positivity rates in the AC, SC, and DMD/BMD groups were 97.4%/86.6%, 100.0%/17.0%, and 66.9%/32.4%, respectively. The seroprevalence of AAV NAbs gradually increased with age, especially in AAV9 NAbs. Females tended to have higher positivity rate than males. Over 85% of ACs had overlapping AAV9 and AAV2 infection. However, being positive for only AAV2 NAbs in the SC group was common, and 30.6% of patients with DMD/BMD were negative for both AAV2 and AAV9 NAbs. Our findings reveal that a significant proportion of patients with DMD/BMD were negative for AAV2 and AAV9 NAbs, which is the population that is most amenable to being treated with gene therapy.
为推动腺相关病毒(AAV)介导的基因治疗在中国的开展,我们对健康受试者以及杜氏肌营养不良症(DMD)/贝克肌营养不良症(BMD)患者体内AAV中和抗体(NAbs)的分布情况进行了研究。本研究纳入了来自一项全国多中心研究的352名健康成年对照者(ACs)、100名学龄儿童对照者(SCs)以及北京协和医院的281例DMD/BMD患者。采用基于细胞的抑制试验,血清样本对感染呈现50%抑制作用的被视为阳性。733名参与者中AAV2和AAV9 NAbs的血清阳性率分别为86.1%和56.3%。AC组、SC组和DMD/BMD组中AAV2 NAbs和AAV9 NAbs的阳性率分别为97.4%/86.6%、100.0%/17.0%和66.9%/32.4%。AAV NAbs的血清阳性率随年龄逐渐升高,尤其是AAV9 NAbs。女性的阳性率往往高于男性。超过85%的ACs存在AAV9和AAV2重叠感染。然而,SC组中仅AAV2 NAbs呈阳性的情况较为常见,30.6%的DMD/BMD患者AAV2和AAV9 NAbs均为阴性。我们的研究结果表明,相当一部分DMD/BMD患者AAV2和AAV9 NAbs呈阴性,而这部分人群最适合接受基因治疗。