Risdiplam for the Use of Spinal Muscular Atrophy.

Abstract

Spinal muscular atrophy (SMA) is one of the leading causes of death in infants related to the degeneration of neurons. Currently, there are no curative treatment options for SMA, and many options available may not be feasible. This review presents the background, clinical studies, and indications for the use of Risdiplam in treating SMA. SMA causes a decrease in the production of survival motor neuron proteins (SMN) and current treatments target to increase the expression of SMN. Risdiplam is the first and only oral medication to be approved to treat SMA. As an SMN2 splicing modifier, it has provided stronger systemic therapies than previous intrathecal and gene replacement therapies. There have been many efforts to treat SMA with multidisciplinary approaches. These include intrathecal injections to gene replacement therapies. However, these have been faced with limitations such as reaching a good therapeutic dose in systemic tissues, route of administration, and price. Risdiplam is currently the only orally administered drug approved by the FDA for the treatment of SMA. It not only provides a good therapeutic window to systemic tissues but allows for a non-invasive approach in infants. Further investigation and comparison on the safety profile of Risdiplam due to its broader systemic effect should be considered with other available therapies.