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.
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.
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;
Sequential
GC101
GeneticSelf-complementary AAV9 carrying a codon-optimized SMN coding sequence(coSMN1) driven by CMV enhancer and chicken β-actin promoter
Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]
Frequency of treatment-related adverse events (AEs), serious adverse events (SAEs), and changes from baseline in relevant clinical laboratory tests
Proportion of patients treated with GC101 who achieve motor milestone of sit unassisted for at least 10 seconds at 18 months of age
Ability to thrive
Ability to thrive is defined as the following at 18 months of age: does not receive nutrition through mechanical support or other non-oral method; maintains weight
Changes from baseline Children's hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) score
CHOP INTEND score ranges from 0 to 64 with higher scores indicating higher motor function
Proportion of event-free survival patients
Proportion of patients who achieve the World Health Organization (WHO) Multicenter Growth Reference Study (MGRS) motor milestones
WHO MGRS gross motor milestones and performance criteria included sitting without support for at least 10 seconds, Hands-and-knees crawling at least three in a row, standing with assistance for at least 10 seconds, walking with assistance at least five steps, standing alone for at least 10 seconds, and walking alone.
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