Introduction: Spinal muscular atrophy (SMA) is a genetic neuronopathy that leads to progressive muscle weakness and atrophy. Features range from mild motor delay to even respiratory failure and death. There has been a paradigm shift in treatment of SMA with advent of disease modifying therapies. Gene therapy by Onasemnogene Abeparvovec (OA) and mRNA splicing modifier Risdiplam are amongst newer agents. This study aimed at assessing efficacy and adverse effect of OA and Risdiplam in SMA. Methods: A single centre retrospective observational study was conducted at a tertiary centre of Mumbai. 12 patients of different types of SMA <2 years who received OA and 6 patients of all SMA types and ages who received Risdiplam were retrospectively followed for maximum 2 years with further plan for future follow up. Outcome was assessed and adverse effect monitored periodically. Results: Out of 12 patients who received OA 3 expired soon after therapy predominantly due to infection. Of the 9 survivors all showed improvement of motor milestones with highest milestone achieved as standing with support in 44% with motor score improving by 22 points in 1 patient. Transaminitis was the only adverse effect noted in 58% patients. Of the Risdiplam group all patients survived and showed improvement in motor milestones with gain of motor score by 10 points in 1 patient without any significant adverse effect. Conclusion: OA and Risdiplam do appear hopeful in SMA but cost of these therapies limit its widespread access and should be next focus of attention. Disclosure: None

Saheli Roy
P.D.Hinduja National Hospital & Medical Research Centre
India

Neelu Desai
P.D.Hinduja National Hospital & Medical Research Centre
India