Roche's Evrysdi® Approved in China: Ushering in a New Oral Treatment Era for Spinal Muscular Atrophy
Roche
Oncology Drug Research, Development, and Manufacturing
On June 16, 2021, China's National Medical Products Administration officially approved Roche's blockbuster innovative neurological drug.Risdiplam Powder for Oral Solution (Chinese Brand Name: Aimuxin®, English brand name: Evrysdi®）, for the treatment of spinal muscular atrophy (SMA) in patients aged 2 months and older. This is the first oral disease-modifying therapy approved in China for the treatment of SMA, providing a novel treatment option for SMA patients and their families in China.
A rare, potentially disabling and fatal neurological disease
The primary cause of SMA is the deletion or mutation of the SMN1 gene in patients, resulting in insufficient systemic expression of functional SMN protein.[1], thereby impairing patients' motor, respiratory, and swallowing functions, as well as multiple organs including the spleen, heart, and pancreas, and even threatening survival.SMA is the most common genetic cause of infant mortality.[2]One of them. Without effective treatment, 80% of children with severe SMA will die within the first year of life, and few survive beyond two years of age.[3]。
The incidence of SMA is 1 in 10,000 live births, with approximately 1,000 new cases reported in China annually, of which approximately 80% suffer fromPatients develop symptoms within 18 months after birth.[4]。In May 2018, the National Health Commission and four other departments jointly formulated the 《First Batch Catalog of Rare Diseases》, aimed at further strengthening rare disease management and improving the diagnostic and treatment standards for rare diseases.SMA was listed as one of the 121 rare diseases included in the first batch catalog.
Deputy Chair of the Endocrinology, Genetics and Metabolism Group, Pediatric Branch, Chinese Medical Association, and Chief Physician at Peking University First Hospital, Professor Xiong Huistated: "There are two most critical aspects to SMA treatment: first, it is a race against time,The earlier SMA patients are diagnosed and effective treatment is initiated, the better the prognosis., even when treatment is initiated prior to symptom onset, holds the promise of achieving a clinical status comparable to that of age-matched healthy children; the second point focuses on the overall benefit to patients, as SMA causes multi-system abnormalities,During treatment, monitor the patient's motor, respiratory, swallowing, and other systems.Therefore, in clinical practice, the treatment of SMA also highly requires the collaborative participation of a multidisciplinary team.”
SMA Treatment Enters a New Era of Oral Therapy
The approval of risdiplam is based on two pivotal, multicenter studies conducted globally: FIREFISH and SUNFISH. These studies enrolled a broad population of patients with SMA, encompassing various disease types, age groups, and motor function statuses, representing a real-world SMA patient population.
Risdiplam powder for oral solution specifically modulates the splicing of the SMN2 gene (an SMN1 homolog) at dual sites, promoting exon 7 inclusion and increasing functional SMN protein levels.Risdiplam can penetrate the blood-brain barrier, distributingIn both the central and peripheral nervous systems, it increases SMN protein levels across multiple systemic tissues and maintains stable concentrations.
Research results indicate that survival rates in patients with type 1 SMA treated with risdiplam are significantly improved compared to the natural history, with patients achieving motor milestones and demonstrating improved respiratory and swallowing functions.[5]. For patients with type 2 and type 3 SMA, motor function and independence in daily living improved following treatment. No drug-related safety events led to study discontinuation.
Based on these results, in April 2020, Roche submitted a marketing authorization application for risdiplam to the National Medical Products Administration (NMPA), and in June, risdiplam was granted priority review designation. To date, risdiplam has been approved in over 40 countries and regions, including China, and globally, more than 3,000 patients with spinal muscular atrophy (SMA) have received treatment with risdiplam.
“The approval of risdiplam marks a significant milestone in the history of SMA treatment in China, signifying that SMA therapy has entered a new phase of oral therapy and bringing new hope to SMA patients and their families in China.”Professor Wang Yi, Chief Physician at the Children's Hospital of Fudan University and Head of the Rare Diseases Group, Pediatrics Branch, Chinese Medical Association, stated: “We are delighted to see that for severe diseases like SMA, which critically impact the survival of infants and young children, China has overcome the long-standing challenge of lacking available treatments. With the approval of innovative therapies, more SMA patients and their families will benefit.”
Professor Jiang Yuwu, Vice Chairman of the Pediatric Branch of the Chinese Medical Association, Head of the Neurology Group, and Director of the Department of Pediatrics at Peking University First Hospital, stated: "The approval of risdiplam provides a new option for SMA patients and their families in China, and will further promote standardized clinical diagnosis and treatment of SMA in China. In recent years, the clinical diagnosis and treatment of SMA in China has developed rapidly, and currently, a number of SMA diagnosis and treatment centers with multidisciplinary capabilities and experience have been established in China."With the broader availability of more effective therapeutic agents, the standardized diagnosis and treatment of SMA and the long-term management of the disease will be progressively refined, further enriching China's clinical experience in SMA treatment and ultimately delivering comprehensive benefits to SMA patients and their families.。”