GC101: Self-complementary AAV9 carrying a codon-optimized SMN coding sequence(coSMN1) driven by CMV enhancer and chicken β-actin promoter
Study summary
The study will evaluate safety and efficacy of intrathecal delivery of GC101 gene therapy drug as a treatment of spinal muscular atrophy Type 2 (SMA 2) patients.
Eligibility
Sex
ALL
Min age
6 Months
Max age
60 Months
Healthy volunteers
No
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 any previous gene therapy research trials;
* Patient who has received Nusinersen within 4 months and Risdiplam within 15 days before 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.
Primary outcome measure(s)
Incidence of Treatment-Emergent Adverse Events — 52 weeks Frequency of treatment-related adverse events (AEs), serious adverse events (SAEs), and changes from baseline in relevant clinical laboratory tests
Proportion of patients who can stand unassisted for at least 3 seconds at Month 12 — 52 weeks
Change from baseline on Hammersmith Functional Motor Scale - Expanded (HFMSE) scores at Month 12 — 52 weeks HFMSE consists of 33 activities that can be scored one of three ways: 0 for unable to perform, 1 for performs with modification/adaptation, and 2 for performs without modification.
Trial sites (5)
Facility
City
Region
Status
Peking University， First Hospital, Department of Pediatrics
Beijing
China
Bayi Children's Hospital, Seventh Medical Center, PLA general hospital
Beijing
China
West China Second University Hospital, Sichuan University
Chengdu
China
Children's Hospital of Chongqing Medical University
Chongqing
China
Tongji Medical college of Huazhong University of Science&Technology, Affiliated Children's Hospital
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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