An Open-Label Study to Evaluate the Safety and Efficacy of ASO-GNAO1 Tianasen in Children With GNAO1-Encephalopathy, Epilepsy, and Movement Disorders Using Repeated Intrathecal Dose Escalation

What this Trial Is About

Researchers are evaluating the investigational drug ASO-GNAO1 Tianasen in children with a specific GNAO1 gene mutation c.607GA linked to epilepsy and neurodevelopmental disorder. This open-label study aims to determine if intrathecal ASO-GNAO1 can slow or stop the progression of motor and cognitive symptoms, assess its safety and tolerability, and find the appropriate therapeutic dose. The trial addresses a severe, progressive disease with no approved treatments, focusing on children who have drug-resistant epilepsy and movement disorders. Participants will receive escalating doses of ASO-GNAO1 through intrathecal injections over 12 months, starting at 0.3 mgkg and increasing every two weeks to a target dose of 1.2 mgkg, with the possibility of further increase to 1.5 mgkg if tolerated. After dose escalation, an interim analysis will evaluate pharmacokinetics, efficacy, and safety to decide on study continuation. All participants receive the active drug, with no placebo group due to the disease severity. Throughout the study, children will undergo frequent neurological exams, biomarker tests, and safety monitoring. Researchers will measure changes in seizure frequency and duration, as well as episodes of non-epileptic movement disorders, from baseline to week 50. Additional assessments include EEG activity, dystonia scales, motor function, developmental tests, and cognitive scores. The study duration and monitoring aim to capture detailed effects and safety data of the investigational treatment.

Tianasen (ASO-GNAO1) for GNAO1-Encephalopathy With Epilepsy and Movement Disorders.