Significant improvement in motor function in SMA patients Roche oral therapy reaches phase 3 clinical end

The cause of SMA is caused by a loss or disorder called a motor neuron survival protein (survival motor, neuron, sMN)SMN protein is essential to maintain the survival of human motor neurons, there are two genes in the human body that can produce SMN protein, the SMN1 gene and the SMN2 gene, but the SMN1 gene plays a leading role, the SMN2 gene produces only a small amount of SMN protein (about 10%)Therefore, once the SMN1 gene dysfunction, it will lead to patients can not produce enough motor neurons survival protein, the patient's motor neurons die rapidly, muscle function is gradually lost, and ultimately lead to paralysis, and can not complete swallowing, breathing and other life-sustaining basic activities, seriously threatening the patient's lifeAlthough SMA is mainly developed in infancy, patients may be of any age from infant to adult, and are clinically divided into type 1, type 2 and type 3 SMA, i.einfant, intermediate and adult SMARisdiplam (RG7916) is an oral SMN2 gene shear regulator developed by Roche's Genentech and PTC Therapeutics and the SMA FoundationIt improves the expression of SMN proteins in the central nervous system (CNS) and peripheral by regulating the splicing process of the SMN2 geneThis strategy for treating SMA is very similar to that of Spinraza, which has been approvedThe difference is that Spinraza uses anonicolinucleotide (ASO) to regulate RNA splicing, which needs to be injected directly into the cerebrospinal fluidRisdiplam is a small molecule drug that can be used orallyClinical trial results have shown that risdiplam showed excellent efficacy in treating infant sashimi type 1 SMACurrently, it is treating SMA patients between 0 and 60 years of age in a number of clinical trialsRisdiplam increased SMN protein levels by regulating SMN2 RNA splicing (Photo: PTC Therapeutics, Inc.)patients aged 2 to 25 and 3 in a phase 3 clinical trial called SUNFISH, including a placebo-controlled groupThe trial data showed that one year after treatment, the patients in the treatment group achieved a statistically significant improvement in the performance scale (MFM-32) score compared to the baseline, the main end of the studyDetailed data on the trial will be released at future medical conferences"The positive results of this trial are an important milestone for patients with Type 2 and Type 3 SMA," said Dr Levi Garraway, Roche's chief medical officer and head of global product development We look forward to sharing these results with regulators and providing innovative treatment options for SMA patients as soon as possible "
References: smh.com.au smh.com.au smh.com.au smh.com.au smh.com.au smh.com.au smh.com.au smh.com.au smh.com.au smh.com.au smh.com.au smh.com.au smh.https:// com.au smh.com.au smh.com.au smh.com.au smh.com.au smh.com.au smh.com.au smh.com.au smh.au smh.au d.2019