ASPIRE Study: A Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Preliminary Efficacy of a Single Intrathecal Administration of TSHA-102, an AAV9-Delivered Gene Therapy, for the Treatment of Pediatric Females Aged >2 to <4 Years With Rett Syndrome
试验速览
- 阶段
- 3 期
- 状态
- 进行中（未招募）
- 入组人数
- 4
- 试验地点
- 4
- 主要终点
- Primary Safety
研究概览
简要总结
The primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome.
详细描述
ASPIRE is an open-label study designed to evaluate the safety, tolerability and preliminary efficacy of TSHA-102 in 3 pediatric females aged 2 to less than 4 years old with typical Rett syndrome.
TSHA-102 is designed to target the genetic root cause of Rett syndrome by regulating the expression of MECP2 in cells. Each participant will be followed for the observation period of 5 years after TSHA-102 administration.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
盲法说明
Blinded central raters
入排标准
- 年龄范围
- 2 Years 至 3 Years（Child）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Pediatric females between the ages of 2 and less than 4 years old.
- •Participant has a clinical diagnosis of classic/typical Rett syndrome with a documented pathogenic mutation of the methyl-CpG-binding protein 2 (MECP2) gene that results in loss of gene function.
- •Participants must be willing to receive blood or blood products for the treatment of an AE if medically needed.
- •Participants and parent/caregiver must agree to reside within easy access to the study site prior to the baseline visit and at least 3 months after TSHA-102 treatment.
排除标准
- •Participant has another neurodevelopmental disorder independent of the MECP2 loss-of-function mutation, or any other genetic syndrome with a progressive course.
- •Participant has a history of brain injury that causes neurological problems or had grossly abnormal psychomotor development in the first 6 months of life.
- •Participant has a diagnosis of atypical Rett syndrome or a MECP2 gene mutation that does not cause Rett syndrome.
- •Participant requires invasive ventilatory support.
- •Note: Other protocol defined inclusion/exclusion criteria may apply
研究组 & 干预措施
Treatment
Participants receive a single intrathecal (IT) administration of TSHA-102 at 1.0 × 10¹⁵ total vector genomes (vg) adjusted for the participant's brain volume.
干预措施: TSHA-102 (Genetic)
结局指标
主要结局
Primary Safety
时间窗: Baseline through Week 25
Safety and Tolerability of TSHA-102 Proportions of participants experiencing any treatment-emergent adverse events (AEs) and serious adverse events (SAEs)
次要结局
未报告次要终点