type 1 spinal muscular atrophy
Conditions
Interventions
Sponsors
The seventh medical center of PLA General Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Subjects must meet the following inclusion criteria: 1) The gene diagnosis of bilateral allele mutation (deletion or point mutation) of SMN1 was SMA, with 2 copies of SMN2 gene, which was consistent with the clinical manifestations of type 1 SMA; 2) Age at onset<6 months, age on the day of injection = 6 months (= 180 days), regardless of gender; 3) The legal guardian can understand the requirements and processes of the research program, and voluntarily participate in and sign the informed consent form.
Exclusion criteria
Exclusion criteria: If any of the following conditions is met, you will not be able to participate in this study 1) Participated in or is participating in other SMA drug clinical trials or other AAV gene therapy clinical research; 2) He has received the treatment of nosinathan sodium and rispiran; 3) Oral administration within 30 days before administration ß 2 Receptor agonists (except salbutamol inhalation); 4) Combined use of any of the following drugs, such as: drugs for myopathy or neuropathy, drugs for diabetes, or immunosuppressive treatment (cyclosporine, tacrolimus, methotrexate, cyclophosphamide, intravenous immunoglobulin, rituximab) planned within 3 months after the start of the trial; 5) During the screening period, the use of invasive ventilator support or the pulse oxygen saturation in a quiet and awake state is less than 95%; 6) Non invasive ventilation support = 16 hours/day is required during screening period; 7) The titer of anti AAV9 neutralizing antibody in serum was>1:200; 8) SMN2 gene modification mutation (c.859 G>C) was positive; 9) Patients with allergic constitution, including those allergic or hypersensitive to prednisolone, other glucocorticoids, their excipients, iodine or iodine containing products, or local anesthetics; 10) There are contraindications to spinal puncture or intrathecal treatment; 1 1) The researchers believe that the concomitant diseases that cause unnecessary risks to gene replacement therapy, such as serious cardiovascular and cerebrovascular diseases, digestive tract diseases, liver and kidney dysfunction diseases, diabetes, known epilepsy, convulsions or convulsions or family history of psychosis; 12) Abnormal laboratory inspection during screening or baseline period, such as: a) In patients with liver and kidney dysfunction, i.e. alanine aminotransferase (ALT), aspartate aminotransferase (AST), Y-glutamyltransferase (GGT), and serum bilirubin, each value is 3 times the upper limit of normal value (ULN); Creatinine>normal value; The activated partial thromboplastin time (APTT) was prolonged by more than 1~1.5 times of the upper limit of normal value* The simple increase of bilirubin level in neonates with normal physiological jaundice should not be excluded; b) Blood routine examination: hemoglobin (Hgb)150g/L, white blood cell (WBC)14.2 × 109 / L, platelet (PLT)614 × 109/L; c) Routine urine test: WBC>5/HP, PRO positive, RBC>3/HP d) Heart function: improved ROSS heart failure grading (infants) reaches the standard of moderate heart failure; 13) Human immunodeficiency virus (HIV) antibody positive, or hepatitis B surface antigen positive, or hepatitis C antibody positive, or treponema pallidum antibody positive: 14) Serious non respiratory tract and respiratory tract infections requiring systemic treatment and/or hospitalization within 2 weeks before screening; 15) According to the Chinese child growth standard, those who are less than 2 standard deviations (X-2SD) of the average weight of children of the same age and sex and are unwilling to use oral feeding alternatives; 16) The interval between vaccination and administration is less than 2 weeks; 17) The researcher thinks it is not suitable to participate in this research.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Safety;effectiveness;Immunogenicity; | — |
Countries
China
Contacts
Public ContactZhichun Feng
The seventh medical center of PLA General Hospital
Outcome results
None listed