Spinal muscular atrophy (SMA) is the first oral drug! The key phase III of risdiplam in the treatment of SMA type 2 and 3 was successful!

November 13, 2019 / BIOON / - Roche, a Swiss pharmaceutical giant, recently released the positive data of the second part of the phase III sunfish study to evaluate the treatment of type 2 or type 3 spinal muscular atrophy (SMA) patients aged 2-25 with risdiplam The results showed that the study reached the main end point of the change of mfm-32 score relative to the baseline: after one year of treatment, risdiplam treated patients showed significant improvement in motor function compared with placebo group To date, no treatment-related safety findings leading to study discontinuation have been found in all clinical trials evaluating risdiplam The security of risdiplam is consistent with the known security, and no new security signal is found Levi Garraway, MD, chief medical officer of Roche, director of global product development, said: "the positive results of this trial are an important milestone for type 2 or 3 SMA patients, too many of whom are still untreated Sunfish is the largest placebo-controlled study ever conducted in patients with type 2 or 3 SMA We thank the SMA community for its partnership and look forward to sharing these results with regulators and bringing risdiplam to patients with this disease " Risdiplam chemical structure (picture source: medchemexpress CN) risdiplam is an oral liquid, motor neuron survival gene 2 (SMN2) splicing modifier designed to continuously increase and maintain the level of SMN protein in the central nervous system and peripheral tissues More and more clinical evidences show that SMA is a multisystem disease The loss of SMA protein may affect many tissues and cells outside the central nervous system Risdiplam showed systemic distribution after oral administration, and increased the level of SMN protein in central nervous system and peripheral tissues continuously It has been shown that risdiplam can improve the motor function of type 1, type 2 and type 3 SMA patients As part of a partnership with SMA foundation and PTC therapeutics, Roche led risdiplam's clinical development project At present, the company is carrying out four global multi center clinical studies (sunfish [nct02908685], firefish [nct02913482], jewelfish [nct03032172], Rainbowfish [nct03779334]) to evaluate the efficacy and safety of risdiplam in the treatment of all types of SMA (type 1, type 2, type 3) and pre symptom SMA Risdiplam is expected to be the first oral drug to treat all three types of SMA Spinraza: the world's first SMA treatment drug, China was approved in February this year SMA is a kind of motor neuron disease that can lead to muscle weakness and atrophy This disease is an autosomal recessive genetic disease caused by gene defects, which will damage the muscles around the patient The main symptoms of the patient are muscle atrophy and weakness, and the body gradually loses all kinds of motor functions, even breathing and swallowing SMA is the number one killer of genetic disease in infants under 2 years old It is a relatively common "rare disease" with a prevalence of 1:6000-1:10000 in newborns According to relevant reports, the number of SMA patients in China is about 30000-50000 at present In December 2016, spinraza (nusinersen), a drug developed by Bojian and its partner Ionis, was approved as the first drug to treat SMA in the world The drug is an antisense oligonucleotide (ASO), which is injected intrathecally to deliver the drug directly to the CSF around the spinal cord, change the splicing of SMN2 pre mRNA, and increase the production of full-functional SMN protein In SMA patients, the lack of SMN protein results in the degeneration of spinal motor neuron function In clinical studies, spinraza treatment significantly improved the motor function of SMA patients In May this year, zolgensma (onasemnogene abeparvovec), a gene therapy from Novartis, was approved as the world's first gene therapy for SMA The drug can prevent the progression of disease by continuously expressing SMN protein after a single and one-off intravenous infusion It can solve the root cause of SMA and is expected to improve the quality of life of patients for a long time In the Chinese market, spinraza was approved at the end of February this year for the treatment of 5q spinal muscular atrophy (5q SMA) patients This approval makes spinraza the first drug to treat SMA in the Chinese market 5q SMA is the most common type of SMA, accounting for 95% of all SMA cases This type of SMA is caused by the mutation of SMN1 (motor neuron survival protein 1) gene on chromosome 5, so it is named 5q SMA Source: Roche's risdiplam meets primary endpoint in vital supply trial in people with type 2 or 3 spiral miscellaneous topology