STXBP1 encephalopathy
Conditions
Interventions
The administration group:Infusion of the RF003 injection through the lateral ventricle route
Sponsors
Nanjing Children's Hospital
Eligibility
Sex/Gender
All
Age
3 Years to 5 Years
Inclusion criteria
Inclusion criteria: 1. The informed consent process should comply with the regulations, and the legal guardian of the subject should voluntarily sign the informed consent form. 2. Age: 3 to 5 years old (inclusive of 3 years old and 5 years old). 3. The electroencephalogram and the recorded clinical history are consistent with STXBP1 encephalopathy. 4. Using the ACMG/AMP and ClinGen frameworks from the genetics laboratory, the reported loci in the report were re-evaluated to determine their potential pathogenicity or pathogenicity level. After reconfirming the variations using independent methods, the process was completed.
Exclusion criteria
Exclusion criteria: 1. The organic diseases or medical histories that the researchers judged to pose risks to the safety of the subjects, including diseases or medical histories of clinical significance such as cardiovascular, pulmonary, liver, kidney or reproductive system, immune system, skeletal muscle system, nervous system disorders (except STXBP1 encephalopathy), or other serious concurrent diseases; and abnormal results of various laboratory tests before gene therapy, such as blood routine, blood biochemistry, urine routine, coagulation function, etc., which are clinically significant and judged by the researchers as not eligible for inclusion, or subjects who the researchers consider not suitable to participate in this trial (such as those with poor physical condition). 2. Unable to tolerate general anesthesia surgery. 3. Having a fever or respiratory infection within two weeks prior to the administration of the research product, or experiencing vomiting or diarrhea within 24 hours before the administration of the research product. 4. The subjects or their guardians were unable to comply with the regulations. 5. Those who had received gene therapy drugs within six months prior to the study product's administration. 6. The total antibodies of AAV9 in blood or cerebrospinal fluid were detected by enzyme-linked immunosorbent assay (ELISA), and the titers of AAV9 antibodies in both blood and cerebrospinal fluid were >= 1:50. 7. It is planned to use antiviral drugs, immunoglobulin and interferon within one month after the administration of the research product. 8. Those who cannot tolerate long-term use of prednisolone acetate are not eligible.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The occurrence situation of serious adverse events;The incidence rate, severity and correlation with the investigational drug of adverse events (AE);The situations of withdrawal or dose adjustment due to adverse events;The tolerance of patients with STXBP1 encephalopathy treated by intracerebroventricular injection of the adeno-associated virus vector RF003 injection solution; | — |
Secondary
| Measure | Time frame |
|---|---|
| The effectiveness of intracerebroventricular injection of the adeno-associated virus vector RF003 injection in treating patients with STXBP1 encephalopathy;After intracerebral injection of the adeno-associated virus vector RF003 solution, the immune response of the body occurred;After intracerebral injection of the adeno-associated virus vector RF003 solution, the shedding of the virus in the body fluids was observed; | — |
Countries
China
Contacts
Public ContactZhang Aihua
Nanjing Children's Hospital
Outcome results
None listed