NCT05740761招募中不适用
Personalized MECP2 Gene Therapy Using CRISPR/Cas9 Technology Coupled to AAV-mediated Delivery in 3D Cell Culture and KI Mice
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 40
- 试验地点
- 1
- 主要终点
- Editing efficiency
研究概览
简要总结
We designed the project to validate CRISPR/Cas9-based gene editing combined with AAV-based delivery for correction of the most common MECP2 mutations both in vitro and in vivo.
详细描述
The project aims to validate CRISPR/Cas9-based gene editing combined with AAV-based delivery for correction of the most common MECP2 mutations both in vitro and in vivo. The laboratory of the principal investigator is an active member of the European Reference Network for rare malformation syndromes and rare intellectual and neurodevelopmental disorders (ERN-ITHACA).
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- 6 Months 至 —（Child, Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Patients -exclusively female- since the pathology is linked to the X chromosome, with a clinical diagnosis of Rett syndrome confirmed at the genetic level by the identification, through NGS analysis, for one of the recurrent mutations (mutational hotspots) in the MECP2 gene object of the study:
- •c. 473C>T - (p.(T158M)), c.502C>T (p(R168X)), c.763C>T (p.(R255X)), c.916C>T (p.(R306C));
- •Age above 6 months;
- •Availability of parents or legal guardians to provide free and informed consent to participate in the study
排除标准
- •NGS diagnosis with the normal outcome;
- •Positive NGS diagnosis for mutation in MECP2 but with the presence of a mutation different from those under study.
- •Unwillingness of parents or legal guardians to provide free and informed consent to participate in the study;
结局指标
主要结局
Editing efficiency
时间窗: 3 years
Percentage of gene editing achieved for each mutation
次要结局
- Editing specificity(3 years)
研究者
Ilaria Meloni
Associate professor
University of Siena
研究点 (1)
Loading locations...
相似试验
已完成
2 期
Molecularly Targeted Therapy in Treating Patients With BRAF Wild-type Melanoma That is MetastaticRecurrent MelanomaStage IIIA MelanomaStage IIIB MelanomaStage IIIC MelanomaStage IV MelanomaNCT02094872Yale University49
撤回
不适用
iCare 2: Personalized Genomic Mutation Informed Treatment of Patients With Myelodysplastic SyndromesMyelodysplastic SyndromesNCT03446638University of Florida
进行中（未招募）
2 期
Gene and Vaccine Therapy in Treating Patients With Advanced MalignanciesMalignant NeoplasmNCT01697527Jonsson Comprehensive Cancer Center6
尚未招募
不适用
Precise Therapy for mCRPC Patients Through Whole Exome Sequencing(PTtWES)Castration-Resistant Prostatic CancerNCT04126915Yinghao Sun200
已完成
2 期
Molecular Profiling and Matched Targeted Therapy for Patients With Unresectable Advanced or Metastatic MelanomaMelanomaNCT02645149Melanoma Institute Australia216