RISDIPLAM: AN ORAL THERAPY FOR SPINAL MUSCULAR ATROPHY
Khadeejathul Nadisha T.*, Dr. Linu Mohan P. and Athira NK.
Spinal muscular atrophy (SMA), is a rare and devastating genetic disease affecting muscle strength and movement. SMA is caused by a mutation of the survival motor neuron 1 (SMN1) gene, which leads to a deficiency of functional SMN protein. Till now, SMA has been curable only with the two most expensive and imported drugs- Nusinersen and Onasemnogene abeparvovec have led to improvements in survival and motor function, they are administered either intrathecally or intravenously respectively. Evrysdi (Risdiplam) is the first and only oral therapy approved by the Food and Drug Administration for treating SMA patients across all types. Risdiplam administration requires no hospitalisation, no anaesthesia, no specialised care centre, no complex administration and no steroids. Hence it became the first “at-home” therapy for SMA patients. Being a daily oral therapy, the significance of risdiplam is three-fold. First, the drug is widely distributed throughout the body. Second, as an oral treatment, it is sustainable in that patients can take it for the rest of their life. Third, it can be administered at home rather than a hospital.
Keywords: Spinal muscular atrophy, survival motor neuron 1, SMN protein, Nusinersen, Onasemnogene abeparvovec, Risdiplam.
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