Study on the Safety, Tolerability, and Preliminary Efficacy of Single Intrathecal Injection of AAV-MECP2 in the Treatment of Rett Syndrome
Rett syndrome (RTT) is a serious neurodevelopmental disorder that has a significant impact on patients and their families. Patients suffer from severe social dysfunction and poor quality of life, and there is currently no effective treatment available. The MECP2 functional loss mutation is the clear pathogenic factor. In recent years, gene therapy has been applied in neuromuscular diseases such as SMA and has achieved good safety and effectiveness. Professor Qiu Zilong's self-developed AAV-MECP2 gene therapy product for RTT was found to significantly improve disease symptoms in RTT model mice, and demonstrated good safety in heath injection testing in monkeys. The dose exploration study of AAV-MECP2 initiated by our researchers is a multicenter, single arm, single intrathecal injection. The plan is to explore two target doses, with 5 subjects enrolled in dose 1 and 3 subjects enrolled in dose 2, to evaluate the safety, tolerability, and preliminary efficacy of single intrathecal injection of AAV-MECP2 in the treatment of RTT.
• 4-10 years old (at the time of signing the informed consent form), female, who meets the typical RTT diagnosis criteria in 2010.
• Gene testing confirms functional loss mutations in the MECP2 gene.
• Complete all Class I vaccination required by the national regulations before the age of enrollment, and the final dose of vaccination must be completed at least 42 days before enrollment.
• Participate in this study with the informed consent of the guardian, understand the risks of intrathecal injection procedures, and agree to collect blood, urine, and cerebrospinal fluid biological samples required for the experiment, as well as receive necessary blood or blood product treatment or other necessary medical treatment if necessary for the condition.