Rett Syndrome Gene Therapy Study Shows Positive Results, PackGene Aids AAV Development

GUANGZHOU, China – February 14, 2025 – In a significant advance for rare disease treatment, the first investigator-initiated clinical study for Rett Syndrome (RTT) gene therapy in Central-South China has yielded promising results. A six-year-old RTT patient, Xixi, has shown notable improvements in motor skills and communication after receiving treatment.

This groundbreaking study is a collaboration between Professor Wenhao Zhou’s team at Guangzhou Women and Children’s Medical Center and Professor Zilong Qiu’s team at Shanghai Jiao Tong University School of Medicine Songjiang Institute. PackGene provided crucial support for this investigator-initiated trial (IIT), assisting from the pre-clinical study phase all the way to its clinical translation by supplying high-quality adeno-associated virus (AAV) vector services for the gene therapy.

Gene Therapy Brings Hope to RTT Patients

Xixi experienced a severe regression in 2021, losing her early abilities to walk and speak, a hallmark of RTT. This ultra-rare neurological disorder, primarily affecting females, leading to severe developmental regression with limited treatment options. Xixi became the first child in Central-South China to receive this gene therapy, and has since shown marked improvement in motor skills, eating, and communication.

The gene therapy utilizes an AAV vector developed by Professor Zilong Qiu’s team, carrying the normal MECP2 gene, delivered via a single intrathecal injection into the brain. This AAV-mediated delivery aims to repair neuronal function by replacing missing or abnormal genes, alleviating neurodevelopmental disorder symptoms.

Expanding Clinical Research to Benefit More Children

Professor Qiu highlighted the potential for long-term benefits from a single injection, reducing patient burden. Pre-clinical studies with the MECP2 gene therapy (RETT-001) showed strong efficacy and safety. The current investigator-initiated clinical trial plans to enroll six RTT children aged 4 to 10, with Guangzhou Women and Children’s Medical Center ensuring rigorous safety monitoring. Professor Wenhao Zhou’s team will continue monitoring Xixi’s progress and plans to expand the trial to develop a more accessible treatment for more RTT children.