type 1 spinal muscular atrophy
Conditions
Interventions
Sponsors
The Seventh Medical Center of PLA General Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. SMN1 bilateral allele mutation (deletion or point mutation) gene is diagnosed as SMA, with 2 copies of SMN2 gene; 2. Conform to the clinical manifestations of type 1 SMA, accompanied by delayed motor function development, poor head control, round shoulder posture and joint hyperactivity; 3. Aged < 8 months on the day of injection and administration, regardless of gender; 4. The legal guardian can understand and is willing to comply with the requirements and procedures of the research protocol, and voluntarily participate in and sign the informed consent form.
Exclusion criteria
Exclusion criteria: 1. Participated in any other gene therapy clinical research; 2. Received nosih sodium and risperidone 90 days before screening and 11 days before screening; 3. Taken orally within 30 days before screening ß2 receptor agonist therapy (except inhalation administration); 4. Patients who use invasive ventilator support or whose blood oxygen saturation is less than 95% and who use non-invasive ventilator support for more than 16 hours a day (BiPAP) for more than 14 consecutive days shall be included in the group at the discretion of doctors or researchers; 5. Serum anti-AAV9 neutralizing antibody titer > 1:50; 6. SMN2 gene modification mutation (c.859GC) was positive; 7. Patients with allergic constitution, including allergy or hypersensitivity to prednisolone or other glucocorticoids or their excipients, and allergy or hypersensitivity to iodine or iodine containing products; 8. There are contraindications for lumbar puncture surgery or intrathecal treatment; 9. Combined with any serious or active disease, the researcher believes that it may interfere with the subject's treatment, evaluation or compliance with the study protocol. Such as respiratory tract infection, cardiovascular disease, kidney disease, liver disease, endocrine disease, malignant tumor, infectious disease, abnormal coagulation +dd dimer mechanism, immune deficiency, etc; 10. Abnormal laboratory test indicators with clinical significance: (1) Patients with liver and kidney dysfunction, namely alanine aminotransferase (ALT), aspartate aminotransferase (AST), total bilirubin (TBIL) ?-Glutamyltransferase (?-GT), glutamic dehydrogenase (GLDH) >= 3 times the upper limit of normal value (ULN); Creatinine > normal value; *It should not be ruled out that the level of bilirubin increases in newborns with normal physiological jaundice; (2) Blood routine: hemoglobin (Hgb) 150 g/L, white blood cell (WBC) 12 x 10^9 /L, PLT 5 /HP, urine protein (pro) positive, red blood cells (RBC) > 3 /HP; (4) Cardiac function: left ventricular ejection fraction (EF) < 55%; 11. Human immunodeficiency virus (HIV) antibody positive, or hepatitis B surface antigen positive, or hepatitis C antibody positive, or treponema pallidum antibody positive; 12. There is active infection without treatment or improper treatment, which requires systematic antiviral or antibacterial treatment during the screening period, or respiratory syncytial virus (RSV), EB virus (EBV), cytomegalovirus (CMV) is detected positive by nucleic acid; 13. The researcher believes that it is not in line with the selected clinical situation.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Safety;Tolerance;Curative effect; | — |
Countries
China
Contacts
Public ContactZhichun Feng
The Seventh Medical Center of PLA General Hospital
Outcome results
None listed