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Evaluating Therapeutic Outcomes in Spinal Muscular Atrophy: An Indian Experience
Smilu Mohanlal1, P M Mubeena1, Hafsa Hussain2
1Department of Pediatric Neurology, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India.
Annals of Indian Academy of Neurology
|August 7, 2025
Summary
Gene therapy demonstrated the greatest motor function improvement in Indian spinal muscular atrophy (SMA) patients, followed by nusinersen and risdiplam. All treatments were safe, supporting personalized SMA therapy.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Spinal muscular atrophy (SMA) is a progressive neuromuscular disease causing motor neuron loss.
- Advancements in disease-modifying therapies (DMTs) offer new treatment avenues for SMA.
- Evaluating these therapies in a diverse Indian cohort is crucial.
Purpose of the Study:
- To compare the efficacy and safety of risdiplam, nusinersen, and gene therapy in Indian SMA patients.
- To assess treatment outcomes across different SMA disease severities.
- To inform personalized treatment strategies for SMA.
Main Methods:
- Retrospective observational study of 47 genetically confirmed SMA patients (types 1-3).
- Treatments included risdiplam, nusinersen, gene therapy, or combination therapies.
- Motor function assessed via Hammersmith functional motor scale expanded (HFMSE) over 12 months.
Main Results:
- All DMTs improved motor function in SMA patients.
- Gene therapy yielded the largest median HFMSE score increase (4 points), followed by nusinersen (3.5) and risdiplam (2.5).
- Consistent safety profiles were observed across all treatments; no new safety concerns emerged.
Conclusions:
- Contemporary SMA treatments are effective, with gene therapy showing superior motor gains in this cohort.
- Personalized treatment strategies are essential due to varying disease severity.
- Further research should focus on optimizing individualized SMA therapy approaches.
