Gene therapy for spinal muscular atrophy: the Qatari experience

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder.
• Onasemnogene abeparvovec (Zolgensma®) is an FDA-approved gene therapy for SMA.

Purpose of the Study:

• To evaluate the clinical outcomes and safety of onasemnogene abeparvovec in Qatari children with SMA.
• To assess the short-term efficacy and tolerability of this gene therapy in a real-world setting.

Main Methods:

• Retrospective review of 9 children (aged 4-23 months) with 5q SMA treated between Nov 2019 and July 2020.
• Monitoring of liver function, platelet count, coagulation, troponin-I, and motor scores (CHOP INTEND).

Main Results:

• All patients experienced transient, asymptomatic elevations in liver enzymes (AST/ALT) or bilirubin.
• One patient had elevated prothrombin time, and another experienced vomiting post-infusion.
• Significant improvements in CHOP INTEND motor scores were observed post-treatment.

Conclusions:

• Onasemnogene abeparvovec demonstrated short-term efficacy and a favorable safety profile in Qatari children with SMA.
• The gene therapy is well-tolerated and shows potential for early treatment benefits in SMA patients.