Risdiplam: A Review in Spinal Muscular Atrophy

<p><b>Declarations</b></p> <p> </p> <p><b>Funding</b> The preparation of this review was not supported by any external funding.</p> <p> </p> <p><b>Authorship and Conflict of interest</b> Julia Paik is a salaried employee of Adis International Ltd/Springer Nature, and declares no relevant conflicts of interest. All authors contributed to the review and are responsible for the article content.</p> <p> </p> <p><b>Ethics approval, Consent to participate, Consent to publish, Availability of data and material, Code availability</b> not applicable</p> <p> </p> <p>Additional information about this Adis Drug Review can be found <a href="http://www.springer.com/gp/adis/products-services/adis-journals-newsletters/adis-drug-reviews">here</a><b></b></p> <p> </p> <p>Abstract</p> <p> </p> <p>Risdiplam (Evrysdi^®) is the first oral drug developed to treat spinal muscular atrophy (SMA) and is approved in multiple countries worldwide. It is approved for the treatment of SMA in patients aged ≥ 2 months in the USA and the EU, with this approval further specified in the EU for the treatment of 5q-autosomal recessive SMA with a clinical diagnosis of SMA types 1, 2, or 3 or with one to four <i>survival motor neuron 2 </i>(<i>SMN2</i>) copies. As an <i>SMN2</i> pre-mRNA splicing modifier, risdiplam increases the production of full-length SMN protein, the lack of which drives the pathophysiology of SMA. In phase 2/3 clinical trials, risdiplam significantly improved motor function in infants with SMA type 1 and in patients aged 2–25 years with SMA types 2 or 3. These motor improvements were maintained with up to 2 years of treatment with risdiplam. Risdiplam had a generally acceptable tolerability profile in these trials. As an oral drug, risdiplam provides a convenient and useful treatment option across a broad range of patient ages and subtypes of SMA.</p> <p> </p> <p>© Springer Nature Switzerland AG 2022</p>