Roche oral SMA therapy is approved for market in the United States.

On August 7, Roche subsidiary Genentech announced fda approval for the listing of Evrysdi (risdiplam) for the treatment of infants and adults over 2 months of age with spinal muscular dystrophy (SMA).
Evrysdi is liquid and is given once a day through oral or nasal feeding tubes, giving it the first and only SMA treatment that can be used at home.
cause of SMA is mainly due to the motor neuron survival gene-1 (SMN1) mutation or deficiency, resulting in the lack of SMN protein in patients.
Because SMN proteins are present throughout the body and are necessary for nerves that control muscles and movement, their absence can lead to the inability of nerve cells to function properly, as a result of systemic multi-systemic suffering, progressive muscular atrophy and other related complications, including physical strength, walking ability, eating or breathing ability will be significantly reduced or lost.
two similar genes, SMN1 and SMN2, in the human body can regulate the expression of SMN protein.
normal conditions, SMN1 expresses all smN proteins needed for normal functioning in the human body, and most of the expression of SMN2 genes is non-functional SMN protein fragments.
Risdiplam is a motor neuron survival gene-2 (SMN2) scissors modifier that alters the selective scissors of SMN2 gene exon 7 to produce a full-length SMN mRNA to express functional SMN proteins.
Risdiplam can be given orally, increasing and maintaining SMN protein levels throughout the central nervous system and the body's outer tissues.
Risdiplam structural SMA mainly develops in inflam, and patients can be at any age from infant to adult.
According to the time of the first appearance of clinical symptoms, SMA patients can be divided into 3 types, including type 1 SMA, usually under 6 months of onset, the child's life is limited, most of the survival time is not more than 2 years old;
FDA approved Risdiplam is based primarily on data from the Critical FIREFISH study (for children aged 2 to 7 months) and the SUNFISH study (for patients aged 2 to 25).
SUNFISH study is the only placebo-controlled study in the world that included patients with adult SMA type 2 and 3.
china also joined the two studies, the first clinical trial of SMA drugs in China.
In the FIREFISH trial, 41% (7/17) of children received risdiplam treatment and were able to sit alone for more than 5 seconds without the help of an outsider (using the BSID-III scale assessment), which is an easy-to-see milestone in the course of a child's natural illness.
addition, 90 per cent (19/21) of children do not need mechanical breathing to survive until 12 months, and live longer than 15 months.
23 months of treatment, 81% (17/21) of children survived without mechanical breathing and survived for more than 28 months.
only 25 percent of children with SMA can survive for more than 14 months without intervention without interventional treatment, " he said.
the SUNFISH study, both children and adult SMA patients achieved significant clinical and statistical improvements in motor performance compared to placebos during the 12th month of treatment.
"Given that most SMA patients in the U.S. remain untreated, we believe Evrysdi's significant clinical benefits and the convenience of oral administration can be a boon for many families with this rare genetic disease," said Levi Garraway, Roche's global head of product development and chief medical officer.
risdiplam's efficacy and safety were evaluated in a large clinical study of more than 450 patients, including patients aged 2 months to 60 years, with significant differences in clinical symptoms and motor performance, including scoliosis or joint contractions, and other treatments were previously received.
Currently, there are four clinical trials conducted by risdiplam, including: SUNFISH (NCT02908685): a two-stage, double-blind, placebo-controlled critical clinical study in patients with type 2 and type 3 SMA (2-25 years of age).
FIREFISH (NCT02913482): An open, two-part critical clinical study in infants with type 1 SMA (2-7 months of age).
JEWELFISH (NCT03032172): An open exploratory trial conducted in patients aged 6 months to 60 years who had received SMA targeted therapy.
RINBOWFISH (NCT03779334): An open, one-arm, multi-center study of genetically diagnosed SMA patients who had not yet developed symptoms from birth to 6 weeks of age (at the time of first drug use).
the study is currently recruiting patients.
SMA is a serious and fatal neuromuscular genetic disease, the incidence rate of newborns living in Europe and the United States is about 1/10000 to 1/6000, is the most common genetic disease leading to infant mortality, there is no accurate data on the incidence of china, about 30,000 to 50,000 children.
April 23 this year, Roche also filed a listing application for Risdiplam in China and was granted priority review status by CDE.
three SMA therapies are currently on the market worldwide. Spinraza,
, was approved in December 2016 as an antisempathic oligonucleotide drug injectable (six times a year) that alters the scissors of the SMN2 gene and increases the production of fully functional SMN proteins, giving the world's first approved treatment for spinal muscular dystrophy, with global sales reaching $2,097 million in 2019.
Novartra's Zolgensma, approved on May 24, 2019, is a gene therapy that delivers a fully functional copy of a person's SMN gene to target motor neuron cells for injection (only one injection) for SMA patients under 2 years of age, with sales of $391 million in 2019.
title: First oral spinal muscular dystrophy therapy! Roche's risdiplam is FDA-approved.