ORCiD
Adam M. Kaye: 0000-0002-7224-3322
Document Type
Article
Publication Title
Orthopedic Reviews
ISSN
2035-8164
Volume
13
Issue
2
DOI
10.52965/001c.25579
First Page
1
Last Page
11
Publication Date
7-11-2021
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.
Recommended Citation
Kakazu, J.,
Walker, N. L.,
Babin, K. C.,
Trettin, K. A.,
Lee, C.,
Sutker, P. B.,
Kaye, A. M.,
&
Kaye, A. D.
(2021).
Risdiplam for the Use of Spinal Muscular Atrophy.
Orthopedic Reviews, 13(2), 1–11.
DOI: 10.52965/001c.25579
https://scholarlycommons.pacific.edu/phs-facarticles/637
Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License
