Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 1 Patients
Trial Parameters
Brief Summary
The study will evaluate safety and efficacy of intrathecal delivery of GC101 gene therapy drug as a treatment of spinal muscular atrophy Type 1 (SMA 1) patients.
Eligibility Criteria
Inclusion Criteria: * Six months of age and younger on day of vector infusion with Type 1 SAM 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 SMN2; * Onset of disease before 6 months of age * 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 who requires non-invasive ventilatory support averaging≥16 hours/day; * Patient with a point mutation in SMN2 (c.859G\>C); * Patient who requires non-invasive ventilatory support averaging≥16 hours/day at screening; * Patient who use invasive ventilatory s