Safety, Tolerability and Preliminary Efficacy Study of a Single Intrathecal Injection of the Dual Vector AAV-CHD3-R1025W Base Editor for the Treatment of Developmental Disorders Caused by the R1025W Mutation in the CHD3 Gene

What this Trial Is About

Researchers are evaluating the safety, tolerability, and early effects of a single intrathecal injection of a dual vector AAV-CHD3-R1025W base editor in children aged 2 to 10 years with developmental disorders caused by the R1025W mutation in the CHD3 gene. This early phase 1 study focuses on developmental delay disorder, intellectual disability, and rare diseases linked to this specific genetic mutation. The treatment involves delivering the base editor using a dual vector adeno-associated virus (AAV) system through an intrathecal injection, which introduces the gene-editing therapy directly into the spinal fluid. During treatment, children's vital signs are closely monitored to detect any immediate adverse effects. After the injection, participants are followed regularly to track the success of gene editing and observe any improvements in neurodevelopment. Long-term safety is also assessed through ongoing monitoring of possible adverse events. Participants will undergo assessments over a 26-week period to measure safety and preliminary efficacy. The main outcome is the incidence of serious adverse events related to the treatment within this timeframe. Additional evaluations include changes in clinical global impression scales and patient global impressions of improvement. The study involves close monitoring of vital signs, immune function, and neurodevelopmental progress to ensure thorough evaluation throughout the trial period.

Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation