NCT06856759

Single-Dose AAV-MECP2 Safety/Tolerability and Efficacy in Rett Syndrome

Recruiting now EARLY_PHASE1 Last updated 1 July 2025

What this trial tests

EARLY_PHASE1 trial testing Intrathecal injection of AAV-MECP2 for the treatment of Rett syndrome in Rett Syndrome in 8 participants. Currently enrolling.

Timeline

14 January 2025

Primary endpoint
23 October 2029

23 October 2029

Quick facts

Lead sponsor	Guangzhou Women and Children's Medical Center
Phase	EARLY_PHASE1
Status	Recruiting now
Study type	INTERVENTIONAL
Allocation	na
Design	single group
Masking	none
Primary purpose	treatment
Enrollment	8
Start date	14 January 2025
Primary completion	23 October 2029
Estimated completion	23 October 2029
Sites	1 location across China

Drugs / interventions tested

• Intrathecal injection of AAV-MECP2 for the treatment of Rett syndrome

Conditions studied

• Rett Syndrome — all drugs for Rett Syndrome →

Sponsor

Guangzhou Women and Children's Medical Center

Who can join

Adults 4 to 10, female only, with Rett Syndrome. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

3 peer-reviewed publications reference this trial (live from Europe PMC):

1. Progress and challenges in intrathecal gene therapy for neurological disorders.
   Kagiava A, Chen X, Finkel RS, Gray SJ, et al · · 2026 · PMID 42134074 · DOI 10.1016/j.ebiom.2026.106294
2. [Adeno-associated virus-mediated gene therapy for genetic epilepsy: prospects and challenges].
   Sun B, Wang XL, Peng J. · · 2026 · PMID 41914423 · DOI 10.7499/j.issn.1008-8830.2507145
3. Viral vectors in neurodegenerative diseases: immune responses and therapeutic applications.
   Wang Y, Mu S, Liu F. · · 2025 · PMID 40606141 · DOI 10.3389/fneur.2025.1603125