type 1 spinal muscular atrophy (SMA1)
Conditions
Interventions
Treatment group:Intrathecal injection of GC101
Sponsors
Seventh Medical Center of PLA General Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Confirmed 5q type 1 SMA patient, with SMN1 biallelic mutation (deletion or point mutation); 2. SMN2 copy number of 2; 3. Age = 12 months, male or female; 4. Patients who are clinically evaluated as being accompanied by bradykinesia, poor head control, round shoulder posture and joint hypermobility; 5. Patients whose legal guardian can understand and willing to comply with the requirements and procedures of the study protocol, voluntarily participate in and sign the informed consent form (ICF).
Exclusion criteria
Exclusion criteria: 1. Patients who have participated in any other clinical gene treatment studies; 2. Patients with invasive ventilator support or oxygen saturation 1:10; 4. SMN2 gene modification mutation (c.859G > C) is positive; 5. Patients susceptible to allergic reactions, including allergy or hypersensitivity to prednisolone or other glucocorticoids or its excipients, allergy or hypersensitivity to iodine or iodine-containing products, etc.; 6. Patients with contraindications to lumbar puncture or intrathecalinjection; 7. Patients with any serious or active disease other than SMA that, in the opinion of the investigator, may interfere with the subject's treatment, evaluation, or compliance with the protocol, such as respiratory tract infection, cardiovascular disease, kidney disease, liver disease, endocrine disease, malignant tumor, infectious disease, abnormal coagulation + DD dimer mechanism, and immunodeficiency; 8. Patients who are positive with human immunodeficiency virus (HIV) antibody, or hepatitis B surface antigen, or hepatitis C antibody, or treponema pallidum antibody; 9. Patients who are positive with respiratory syncytial virus (RSV), or Epstein-Barr virus (EBV), or cytomegalovirus (CMV); 10. Patients who have evidence of aspiration in the swallowing test and are unwilling to use alternative oral feeding; 11. Other situations that the investigator thinks are not suitable to participate in this clinical trial.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Adverse Events (AEs);Laboratory examination; | — |
Secondary
| Measure | Time frame |
|---|---|
| Neuromuscular function score (CHOP-INTEND Score);Pharmacokinetics; | — |
Countries
China
Contacts
Public ContactFeng Zhichun
Seventh Medical Center of PLA General Hospital
Outcome results
None listed