Outcome of Pediatric Rehabilitation in SMA post gene therapy

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder marked by the degeneration of alpha motor neurons in the spinal cord, leading to progressive proximal muscle atrophy and paralysis. The incidence of SMA is notably higher in the Middle East compared to the Western world, partly due to the higher rates of consanguineous marriages in the region. Recent advances have introduced therapies such as Spinraza, Zolgensma, and Risdiplam which have been approved by the US Food and Drug Administration (FDA) and the European Medicines Agency (EMA). These treatments represent a significant shift from managing progressive neurodegeneration to achieving milder, chronic forms of the disease.

The introduction of gene therapy has transformed SMA management, necessitating a comprehensive, multidisciplinary approach. This approach involves collaboration among healthcare professionals including pediatricians, neurologists, physical medicine specialists, pulmonologists, and rehabilitation experts, as well as therapists such as physical, occupational, and speech therapists and dietitians, with involving patients, caregivers, and families.

This paper explores the role of rehabilitation in optimizing outcomes for pediatric SMA patients receiving gene therapy at Qatar Rehabilitation Institute. It aims to evaluate how early and comprehensive rehabilitation strategies can enhance the effectiveness of expensive interventions like gene therapy.

A multidisciplinary team whose follow the standard of care ( practice guidelines for clinical care 2007-2018)  at the Qatar Rehabilitation Institute provides long-term rehabilitation , integrated medical care for SMA patients post-gene therapy. This care includes positioning and bracing, supported standing, stretching, management of musculoskeletal deformities, physical exercise training (including aerobics, hydrotherapy and strengthening exercises), use of assistive devices, speech and dysphagia treatment. The study assesses the impact of these rehabilitation strategies on motor function, daily living activities, and overall quality of life.

Rehabilitation play important role in improving motor function and daily performance like range of motion in SMA patients undergoing gene therapy. Early intervention and ongoing rehabilitation have contributed to better outcomes in terms of motor skills, activities of daily living, and quality of life.

The shift to gene therapy necessitates an evolved approach to SMA management. Effective rehabilitation is crucial in maximizing the benefits of such costly treatments. 

This paper Describe improvement of SMA with intensive pediatric rehabilitation who received therapeutic intervention (gene therapy with or without Nusinersin ) in pediatric rehabilitation department in Qatar by monitoring in the score of CHOP INTENT tools / Hammersmith.

This study is a retrospective observational study where data will be collected for about 18 children with SMA  between age 0 to 14 years from period 01/06/2018 to 31/08/2024 who are followed up in SMA multidisciplinary clinic , Qatar Rehabilitation Institute.