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

NCT06856759 · Status: RECRUITING · Phase: EARLY_PHASE1 · Type: INTERVENTIONAL · Enrollment: 8

Last updated 2025-07-01

No results posted yet for this study

Summary

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.

Conditions

Interventions

GENETIC

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

For Dose 1, the first 5 subjects will be enrolled in the trial in sequence, with one patient completing the administration and no significant dose limiting toxicity (DLT) observed during a one month follow-up. The latter subject will be enrolled in the trial medication. Once the fifth subject in Dose 1 completes the administration and no significant DLT is observed after a follow-up period of at least two weeks, the study dose can be escalated to a higher level. For Dose 2, the 3 subjects will be enrolled in the trial in sequence, with one patient completing the administration and no significant DLT observed during a one month follow-up. The latter subject will be enrolled in the trial medication. DLT definition: see Study Description.

Sponsors & Collaborators

  • Guangzhou Women and Children's Medical Center

    lead OTHER

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
4 Years
Max Age
10 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-01-14
Primary Completion
2029-10-23
Completion
2029-10-23

Countries

  • China

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06856759 on ClinicalTrials.gov