Actively Recruiting
Single-Dose AAV-MECP2 Safety/Tolerability and Efficacy in Rett Syndrome
Led by Guangzhou Women and Children's Medical Center · Updated on 2025-07-01
8
Participants Needed
1
Research Sites
249 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Single-Dose AAV-MECP2 Safety/Tolerability and Efficacy in Rett Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Female children aged 4 to 10 years at the time of consent
- Diagnosed with typical Rett syndrome according to 2010 criteria
- Genetic testing confirms functional loss mutation in the MECP2 gene
- Completed all required Class I vaccinations at least 42 days before enrollment
- Guardian provides informed consent and agrees to necessary sample collections and treatments
You will not qualify if you...
- Having neurodevelopmental disorders or pathogenic gene mutations other than MECP2 functional loss
- Neurological damage from brain injury, suffocation, or hypoxia
- Brain tumors or intracranial space-occupying lesions detected by MRI
- Abnormal psychomotor development within 6 months after birth
- Diagnosed with atypical Rett syndrome or clinical diagnosis inconsistent with MECP2 mutation
- Requires invasive respiratory support
- Contraindications for lumbar puncture or intrathecal injection, such as high cerebrospinal fluid pressure, skin infection at puncture site, trauma, abscess, severe spinal conditions, deformities, spinal cord compression, or bleeding tendency
- History of status epilepticus longer than 30 minutes or unstable recurrent seizures in past 3 months
- Other unstable systemic diseases including active infections like bacteria, fungi, HIV, hepatitis A or B
- Significant abnormal liver enzymes or other specified lab abnormalities
- Serum anti-AAV neutralizing antibody titer above 1:50
- Use of systemic immunosuppressive drugs (other than protocol-specified prophylaxis) within 3 months prior
- Previous gene therapy
- Planned medication changes or participation in other clinical trials within specified timeframes
- Known allergy to the investigational drug
- Any condition deemed inappropriate for study participation by the investigator
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Guangzhou Women and Children's Medical Center
Guangzhou, Guangdong, China, 510623
Actively Recruiting
Research Team
J
Jingqi Zhang, MSc
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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