Spinal Muscular Atrophy
Conditions
Interventions
Experimental group:Intrathecal adeno-associated virus injection AAV9-SMN (GC101)
Sponsors
Beijing Tiantan Hospital, Capital Medical University
Eligibility
Sex/Gender
All
Age
18 Years to 80 Years
Inclusion criteria
Inclusion criteria: 1. The age of onset is 18-25 years old, and the gender is not limited; 2. Clinically diagnosed as type 3 5qSMA; 3. Have the ability to sit alone and have a certain walking ability; 4. SMN2 gene modification mutation (c.859 G > C) is negative; 5. Fertile subjects should have no parenting plans during the trial period and follow-up period, and agree to take appropriate contraceptive measures to avoid pregnancy or make their partners pregnant; 6. Subjects can understand and are willing to abide by the content of the research protocol, voluntarily participate and sign the informed consent.
Exclusion criteria
Exclusion criteria: 1. Patients who have participated in any other SMA gene therapy clinical research; 2. Serum Anti-AAV9 neutralizing antibody titer > 1:10; 3. Patients with allergies, including allergies to prednisolone or other glucocorticoids or their excipients, iodine or iodine-containing products; 4. There are contraindications for lumbar puncture or intrathecal treatment; 5. Imaging examinations show severe scoliosis ( >= 50°), or planned scoliosis repair surgery within 1 year after administration 6. Invasive ventilation support or blood oxygen saturation < 95%; 7. Respiratory tract infection occurred within four weeks before the study, requiring medical intervention; 8. History of bacterial meningitis or cerebrospinal disease; 9. Any other serious or active disease other than SMA, which the investigator believes may interfere with the subject's treatment, evaluation or compliance with the research protocol. Such as cardiovascular disease, kidney disease, liver disease, endocrine disease, malignant tumor, diabetes, hypersensitivity constitution, infectious disease, abnormal blood coagulation mechanism, immunodeficiency, severe mental and nervous system diseases, etc.; 10. Human immunodeficiency virus (HIV) antibody positive, or hepatitis B surface antigen positive, or hepatitis C antibody positive, or Treponema pallidum antibody positive; 11. Pregnant or lactating women; 12. Those with a history of alcohol and drug abuse; 13. The researcher thinks it is not suitable to participate in this research.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Clinical Adverse Events; | — |
Secondary
| Measure | Time frame |
|---|---|
| Pharmacokinetic parameters;Neuromuscular Function Score (HFMSE);Neuromuscular Function Score (RULM);Anti-AAV9 neutralizing antibody; | — |
Countries
China
Contacts
Public ContactZaiqiang Zhang
Beijing Tiantan Hospital, Capital Medical University
Outcome results
None listed