First-in-human nuclease-free homologous recombination-dependent gene editing in pediatric patients with methylmalonic acidemia: results of a phase 1/2 study [0.03%]
甲基丙二酸血症患儿体内不使用核酸酶的同源重组型基因编辑治疗I期/II期临床试验结果
Jirair K Bedoyan,Thomas Morgan,Angela Sun et al.
Jirair K Bedoyan et al.
Gene-based editing can potentially correct the genetic defect in methylmalonic acidemia (MMA). SUNRISE, a first-in-human phase 1/2 open-label study, evaluated the safety/tolerability (primary endpoints) of liver-targeted hLB-001 in four ped...
CJ-1: an optimized mRNA platform with enhanced protein expression and minimal immunogenicity for therapeutic applications [0.03%]
CJ-1：一种蛋白质表达增强且免疫原性最小的治疗性优化型mRNA平台
Seyoung Kim,Min Ju Jo,Min Seon Jeong et al.
Seyoung Kim et al.
Messenger RNA therapeutics offer broad potential across various diseases, yet achieving sustained and efficient protein expression remains a central challenge. In this study, we report CJ-1, a novel mRNA construct engineered through systema...
Building a gene editing lexicon: a model for rare and inherited disorders [0.03%]
构建基因编辑词汇表：罕见及遗传性疾病的模型
Leonard A Valentino,Cedric Hermans,Donna Coffin et al.
Leonard A Valentino et al.
As more advanced cell and gene therapies, including gene editing technologies, progress through drug development, there is increased emphasis on the importance of stakeholders, including people living with disease, caregivers, and healthcar...
Topical application of Cas9 ribonucleoproteins inhibits corneal neovascularization in a mouse model of alkali burn injury [0.03%]
一种碱烧伤小鼠模型的角膜新生血管化 topical 应用Cas9 核糖核蛋白抑制疗法
Seok Jae Lee,Bae-Geun Nam,Sung-Ah Hong et al.
Seok Jae Lee et al.
Corneal neovascularization is a sight-threatening condition for which current treatments such as anti-VEGF agents are limited by invasiveness and side effects. We present the first non-viral, CRISPR/Cas9-based gene therapy delivered via top...
Seroprevalence of anti-AAV antibodies in a healthy adult Spanish population: findings from the SAAVIA study [0.03%]
西班牙SAAVIA研究中健康成人受试者对AAV抗体的血清阳性率
Rafael Parra,Assumpció Bosch,Angela Sánchez et al.
Rafael Parra et al.
Adeno-associated virus (AAV) vectors are essential tools for gene therapy (GT), yet preexisting immunity can hinder their efficacy. This study examines the seroprevalence of total binding IgG against AAV serotypes 2, 5, 6, 8, and 9, and neu...
Securitization as a means to pay for cell and gene therapies for orphan diseases: a simulation study [0.03%]
关于细胞及基因疗法证券化支付罕见病治疗费用的模拟研究
John M Lu,Avi J Cherla,Alexander W Carter et al.
John M Lu et al.
Cell and gene therapies may provide life-extending treatments for patients. However, paying for these therapies using a single upfront payment will be challenging because of uncertainty about long-term clinical effectiveness and affordabili...
Spatial transcriptomics and single-nucleus RNA sequencing reveal rAAV2- and rAAV9-specific transduction signatures in the mouse liver [0.03%]
空间转录组学和单核RNA测序揭示了rAAV2和rAAV9在小鼠肝脏中的特异性转导信号
Bettina Amberg,Fabian Köchl,Nadine Kumpesa et al.
Bettina Amberg et al.
The liver is a primary target for recombinant adeno-associated viral (rAAV) vectors, yet the influence of serotype, sex, and liver zonation on transduction and transcriptomic changes remains incompletely understood. This proof-of-concept st...
AAV-mediated gene replacement therapy for LRAT-associated retinitis pigmentosa: a proof-of-concept study in a patient-based rat model [0.03%]
基于患者的相关大鼠模型进行LRAT相关视网膜色素变性的AAV介导基因替代治疗的概念验证研究
A M El-Kalaani,J B Ten Brink,C J F Boon et al.
A M El-Kalaani et al.
Retinitis pigmentosa (RP) is an inherited retinal disease that causes progressive vision loss, ultimately leading to blindness. Currently, RP is mostly untreatable, and patients can only manage their symptoms through supportive measures suc...
First pilot study of intravenous rAAV-PAX6 gene therapy increases retinal-ganglion-cell-layer thickness and Notch1 transcription in a mouse model of aniridia [0.03%]
视网膜神经节细胞层腺相关病毒介导的PAX6基因治疗增加Notch1转录的首次研究：小鼠无虹膜病模型中的初步试验结果
Diana Djaksigulova,Sif G Kaad,Andrea J Korecki et al.
Diana Djaksigulova et al.
Aniridia is a rare congenital vision-loss disorder that is caused primarily by heterozygous loss-of-function variants in the PAX6 gene. There is currently no curative treatment. Gene therapy has emerged as a powerful strategy for treating i...
In vitro and in vivo rescue of dopaminergic neurons in Parkinson's disease models after Parkin gene therapy [0.03%]
帕金森病模型经Parkin基因治疗后的多巴胺能神经元的体内外营救作用
Takeshi Hioki,Masaaki Nishimura,Xiuxia Sun et al.
Takeshi Hioki et al.
Young-onset Parkinson's disease (PD), the most common autosomal recessive familial PD, is caused by gene mutations in Parkin (PRKN). These mutations result in Parkin protein loss and reduced enzymatic activity, leading to severe degeneratio...