Risdiplam: First Approval
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ADISINSIGHT REPORT
Risdiplam: First Approval Sohita Dhillon1
© Springer Nature Switzerland AG 2020
Abstract Risdiplam (Evrysdi™) is an orally administered, survival motor neuron 2 (SMN2)-directed RNA splicing modifier being developed by Roche, PTC Therapeutics Inc and the SMA Foundation for the treatment of the spinal muscular atrophy. The small molecule is designed to treat spinal muscular atrophy caused by mutations in chromosome 5q leading to SMN protein deficiency. The drug boosts the ability of an alternative gene SMN2 to produce full-length and functional SMN protein. In August 2020, Evrysdi™ (risdiplam) received its first approval in the USA for the treatment of spinal muscular atrophy in patients 2 months of age and older. Risdiplam is in pre-registration for this indication in numerous countries worldwide, including the European Union, Brazil, Chile, China, Indonesia, Russia, South Korea and Taiwan. This article summarizes the milestones in the development of risdiplam leading to this first approval for spinal muscular atrophy.
Risdiplam (Evrysdi™): Key points Orally administered, SMN2-directed RNA splicing modifier being developed by Roche, PTC Therapeutics Inc and the SMA Foundation for the treatment of spinal muscular atrophy Received its first approval on 7 August 2020 in the USA Approved for the treatment of spinal muscular atrophy in patients 2 months of age and older
1 Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neurological disease characterized primarily by the degeneration of spinal motor neurons, resulting in muscle weakness Enhanced material for this AdisInsight Report can be found at https://doi.org/10.6084/m9.figshare.12960173. This profile has been extracted and modified from the AdisInsight database. AdisInsight tracks drug development worldwide through the entire development process, from discovery, through preclinical and clinical studies to market launch and beyond. * Sohita Dhillon [email protected] 1
Springer Nature, Mairangi Bay, Private Bag 65901, Auckland 0754, New Zealand
and reduced life expectancy [1, 2]. SMA is classified into four subtypes (Type 0–4) according to age at onset and the motor milestones reached [3]. Most (95%) SMA cases are caused by the deletion and/or mutation of the survival of motor neuron 1 (SMN1) gene, resulting in insufficient levels of functional SMN protein [3]. A second very closely related gene, SMN2, produces low levels of functional SMN protein, primarily due to a pre-mRNA splicing error [1, 2]. The major transcription product of SMN2 is a shorter and non-functional SMN protein predominantly because of exon 7 skipping due to a single nucleotide transition [3, 4]. In patients with SMA, reduced quantities of full-length and fully functional SMN protein can be produced by SMN2; thus, higher copy numbers of SMN2 result in milder phenotypes. Various therapeutic approaches have been used in SMA, including treatments that modify splicing of SMN2 to produce full length SMN, replacing the SMN1 gene via a viral vector, or upre
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