Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 2 Patients
SMA II
About this trial
This is an interventional treatment trial for SMA II
Eligibility Criteria
Inclusion Criteria: Between 6 months and 60 months of age on day of signing informed consent form; Patient with SMA Type 2 as defined by the following features: Diagnosis of SMA based on gene mutation analysis with bi-allelic SMN1 mutations (deletion or point mutations) and 2 copies of SMN Onset of disease between 6 and 18 months of age Patient who can sit alone but never be able to stand or walk alone ; The patient's legal guardian(s) must be able to understand the purpose and risks of the study and voluntarily provide signed and dated informed consent prior to any study-related procedures being performed. Exclusion Criteria: Patient who has participated in a previous gene therapy research trials; Patient who has received Nusinersen and Risdiplam treatment; Patient who has AAV9 neutralizing antibody titer ≥1:200; Patient with a point mutation in SMN2 (c.859G>C); Patient who requires non-invasive ventilatory support averaging≥12 hours/day at screening, or use invasive ventilatory support or pulse oximetry < 95% saturation while awake and calm at screening; Patient who is positive for human immunodeficiency virus (HIV) antibody, hepatitis B surface antigen, hepatitis C antibody, or treponema pallidum antibody; Abnormal laboratory values considered clinically significant, including gamma-glutamyl transferase(GGT), Aspartate aminotransferase (AST), alanine aminotransferase (ALT), bilirubin > 3x upper limit of normal (ULN), Hemoglobin (Hgb)< 110 or >150 g/L, platelet <lower limit of normal (LLN);Class IV patient based on Modified Ross Heart Failure Classification for Children; Patient with a history of glucocorticoid allergy; Contraindication that would interfere with the lumbar puncture procedures; Presence of an untreated active infection requiring systemic antiviral therapy at any time during the screening period; Vaccination less than 2 weeks before infusion of vector; Patient who has any concurrent clinically significant major disease or any other condition that, in the opinion of the Investigator, makes the subject unsuitable for participation in the study. Note: Other protocol defined inclusion/exclusion criteria may apply.
Sites / Locations
- Peking University, First Hospital, Department of PediatricsRecruiting
- Bayi Children's Hospital, Seventh Medical Center, PLA general hospitalRecruiting
- West China Second University Hospital, Sichuan University
- Children's Hospital of Chongqing Medical University
- Tongji Medical college of Huazhong University of Science&Technology, Affiliated Children's Hospital
Arms of the Study
Arm 1
Arm 2
Arm 3
Experimental
Experimental
Experimental
Low dosing group
Medium dosing group
High dosing group
1.2x10^14 vg/person of GC101 delivered one-time intrathecally (n=3)
2.4x10^14 vg/person of GC101 delivered one-time intrathecally (n=3)
4.8x10^14 vg/person of GC101 delivered one-time intrathecally (n=3)