Spinal Muscular Atrophy (SMA) is a group of rare, inherited neuromuscular disorders characterized by the degeneration of lower motor neurons, resulting in reduced signally to associated muscles leading to progressive muscle wasting, decreased muscle tone, and weakness. It is most commonly caused by mutations in the survival motor neuron 1 (SMN1) gene, which is essential for producing SMN protein. Treatment for SMA aims to improve patients' quality of life and increase independence through mobility aids, chest physiotherapy, ventilatory support, and gastrostomy placement alongside pharmacological interventions.

Current drug treatment options include disease-modifying therapies that aim to increase SMN protein production or replace the faulty SMN1 gene, thereby are classified as SMN-based therapies. Muscle-directed therapies are an up-and-coming class of SMA treatments that offer an alternative option to improve muscle strength and function by targeting the muscle tissue directly. Given the limited therapeutic options for SMA and the severe impact of this rare disease, there is a high unmet need for novel treatments. However, the challenges to develop effective drugs and the small target populations mean high prices for SMA therapies, which means strict reimbursement criteria and logistical complexities could be major challenges for patients to access new treatments.

This Datamonitor Healthcare report contains a Disease Analysis module.