The world's first spinal muscular dystrophy (SMA) gene therapy! Novartis' revolutionary and highly innovative one-off therapy Zolgensma is approved by the European Union!

MAY 20, 2020 /PRNEWSWIRE
BIOON/

NOVARTIS
GENE THERAPY
COMPANY AVEXIS RECENTLY ANNOUNCED THAT THE EUROPEAN COMMISSION (EC) HAS CONDITIONAL APPROVAL OF GENE THERAPY ZOLGENSMA (ONASEMNOGENEABEPARVOVEC) FOR THE TREATMENT OF 5Q SPINAL MUSCULAR ATROPHY In patients with sylacross (SMA), (1) SMN1 has a double allele mutation, and the clinicaldiagnosis5qSMA patients with SMA-1 type, and (2) 5qSMA patients with a double allele mutation in the SMN1 gene and up to 3 copies of the SMN2 geneAccording to approved administration guidelines, the approval includes infants and young children weighing up to 21 kgZolgensma was approved by the U.SFDAin May 2019, becoming the world's first gene therapy to treat SMA5q-SMA is the most common type of SMA, accounting for about 95% of all SMA cases, which is caused by a mutation in the SMN1 (Motor Neuron Survival Protein 1) gene on chromosome 5, hence the name 5q-SMAIn Europe, about 550-600 babies are born with SMA each yearSMA is a major burden on the European health system, with the cumulative medical costs of each SMA child estimated at between 2.5 and 4 million euros in the first 10 years aloneaccording to the, according to the Pediatric Neuromuscular Clinical Study (PNCR) SMA Natural History Study, almost all patients under the age of 5 weigh less than 21 kg, and some at age 6, 7 and 8 weigh less than 21 kgAveXis is planning a product launch that will allow treatment of patients weighing up to 21kg and is working with the European Medicines Agency (EMA) to finalize the supply scheduleSMA is a rare genetic neuromuscular disease caused by a lack of functional SMN1 genesSMA can cause rapid and irreversible loss of motor neurons, affecting muscle function, including breathing, swallowing and basic movement SMN2 is a backup gene for SMN1, almost identical, the number of copies of SMN2 is negatively correlated with the severity of sma phenotypes, and patients with 2 copies of the SMN2 gene are likely to develop into infant-type SMA (also known as SMA-1), while patients with 3 or 4 copies of the SMN2 gene are likely to develop late-stage SMA (SMA-2 and S-S-3) SMA is the number one genetic killer in the infant and young child population under 2 years of age, with SMA-1 being the most common type, accounting for about 60% of all cases Without treatment, more than 90 per cent of patients will die at age 2 or require permanent ventilation Zolgensma is a revolutionary and highly innovative one-off gene therapy designed to address the genetic causes of SMA disease by replacing the function of the missing or ineffective SMN1 gene After a single intravenous infusion (IV) administration, Zolgensma introduced a functional copy of the SMN1 gene into the patient's cells, continuously expressing functional SMN proteins to prevent disease progression, thereby improving the quality of patient sesame in the long term Clinical studies have shown that Zolgensma single infusion therapy shows significant clinical benefits in patients with symptoms and symptoms, including extending event-free survival and achieving movement milestones not seen in the natural history of the disease Dave Lennon, president of AveXis, said: "The EU's approval of Zolgensma is an important milestone for the SMA community, further underlining the great clinical value of Zolgensma as SMA's only gene therapy and offers new hope for patients affected by this rare but devastating disease Even in the current pandemic, Zolgensma has been established in France and Germany due to the urgent need for treatment of SMA In addition, we met with more than 100 stakeholder organizations in Europe to discuss our "DayOne" acquisition program, which enables rapid access to Zolgensma treatment for SMA patients through customizable options running within the framework of local pricing and reimbursement "
SMA Boys (pictured from drpgx.com)png European Commission approves Zolgensma, based on the completed Phase I START trial and phase III STR1VE-US trial START and STR1VE-US were conducted in patients with 1-2 copies of SMN2 backup genes and 2 copies of SMN2 backup genes, respectively, in patients with symptomatic type 1 SMA who were 6 months old at the time of administration, assessed the efficacy and safety of single-use intravenous Infusion Zolgensma therapy Zolgensma shows: (1) survival rates that have never been seen in the natural history of the disease; (2) rapid improvement in motor function, usually within one month of administration, and (3) milestone achievements, including the ability to sit unsupported, which is a milestone never achieved in untreated patients Patients in the START long-term follow-up trial are now 5 years old other supporting data includes the interim results of the ongoing SPR1NT trial, an open label, single-arm Phase III trial that was conducted in SMA patients who were genetically defined as SMN1 dual allele missing and carrying 2-3 copies of SMN2 backup genes, who were 6 weeks old at the time of administration, assessed the efficacy and safety of a single-use intravenous infusion of Zolgensma Interim results from the SPR1NT trial show that Zolgensma treatment shows significant milestone benefits for rapid, age-matching these data reinforce the importance of early intervention in SMA patients, it is important to diagnosis of
sMA and begin treatment as early as possible, including active supportive treatment to prevent irreversible loss of motor neurons and disease progression In studies, the most common side effects of Zolgensma treatment were elevated liver enzymes and vomiting Patients may experience acute severe liver damage and elevated transaminase, and patients with congenital liver injury may have a higher risk Before infusion, the doctor should evaluate the liver function of all patients through clinical and laboratory examinations All patients should be treated with systemic corticosteroids before and after treatment, and liver function should continue to be monitored for at least 3 months after infusion SMA Treatment: 2 drugs are available worldwide, Spinraza was approved in China in February 2019
SMA is a motor neurone disease that causes muscle weakness and atrophy, which is an autosomal recessive genetic disease caused by genetic defects, which affects the muscles under the patient's body, the patient is mainly characterized by general muscle atrophy, the body gradually loss of various motor functions, even breathing and swallowing SMA is the number one genetic disease killer in the infant and young child population under 2 years of age, a relatively common "rare disease" with a prevalence rate of 1:6000-1:10,000 in newborns According to reports, the number of SMA patients in China is currently about 3-5 million so far, two drugs have been approved for SMA treatment In December 2016, spinraza, a drug developed by Yan Jian and partner Ionis, was approved as the world's first drug to treat SMA The drug is an antonymic nucleotide (ASO) that is delivered directly to the cerebrospinal fluid (CSF) around the spinal cord through intra-infusion injection, altering the splicing of the SMN2 pre-messenger RNA (pre-mRNA) and increasing the production of the full-length functional SMN protein In SMA patients, insufficient Levels of SMN protein sedlead the function of motor neurons in the spinal cord In clinical studies, Spinraza therapy significantly improved motor function in SMA patients May 2019, Novartis gene therapy Zolgensma (onasemnogeneabeparvec) was approved as the world's first gene therapy to treat SMA The drug can prevent the disease progression by continuously expressing SMN protein after single and disposable intravenous infusion, which can solve the underlying cause of SMA and hopefully improve the quality of life of patients in the long term , Roche is also developing an oral therapy risdiplam, a motor neuron survival gene 2 (SMN2) shearing modifier for all types of SMA(type 1, type 2, type 3) The drug is under review by the U.S FDA and is expected to be reviewed in August If approved, risdiplam will be the first oral drug to treat all three types of SMA in the Chinese market, Spinraza was approved for treatment of patients with 5q spinal muscular dystrophy (5q-SMA) at the end of February 2019 This approval makes Spinraza the first drug to be used to treat SMA in the Chinese market (BioValleyBioon.com) original source: Ave XisreceivesEC
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roval andactives "DayOne" access program for Zolgensma, the onlygenetherapyforspinaldora (SMA)