Recently, the Multi-Disciplinary Treatment team (MDT) for SMA (spinal muscular atrophy) at Fudan University Children’s Hospital successfully treated a Type 1 SMA patient from Vietnam.
The patient exhibited limb weakness just over a month after birth and was diagnosed with Type 1 SMA through genetic testing. This is a clinically severe and rapidly progressing rare disease that includes progressive muscle weakness, respiratory difficulties, and swallowing difficulties; most patients will die from respiratory failure before the age of two.
After extensive consultations, the patient’s parents learned that Fudan University Children’s Hospital in Shanghai has a high level of expertise in the diagnosis and treatment of SMA, leading them to ultimately choose Shanghai for treatment.
The hospital treatment team developed a personalized comprehensive treatment plan for the child after a consultation. During the treatment process, the child encountered severe complications such as severe pneumonia and respiratory failure. With the joint efforts of the multidisciplinary treatment team, the child successfully transitioned from being unable to breathe independently and experiencing limb paralysis and weakness to being able to wean off the ventilator, regain vitality in both upper limbs, and move freely, resulting in significant physical improvement.
Fudan University Children’s Hospital is at the forefront of SMA treatment globally. They have participated in multiple high-quality, multicenter clinical studies for innovative gene therapy and small molecule treatments, such as Nusinersen and Risdiplam.
As of now, there are three effective drugs approved for the treatment of SMA worldwide. Among them, Biogen’s Nusinersen and Roche’s Risdiplam have been launched in China, and Novartis’s Zolgensma is currently undergoing clinical trials.
Nusinersen is the world’s first precision-targeted treatment for SMA. Administered via intrathecal injection, it delivers the drug directly into the cerebrospinal fluid surrounding the spinal cord, thereby improving motor function, increasing survival rates, and altering the disease progression of SMA.
Risdiplam has significantly improved the motor function and quality of life for SMA patients. For infants with Type 1 SMA, those who received Risdiplam treatment made notable progress in key motor milestones, such as sitting, standing, and walking.
Thanks to the Chinese government’s medical insurance negotiation policies and the rapid development of innovative drug research and development in China, many innovative therapies are now available to patients at a faster pace and more cost-effective prices. This has made China a highly cost-effective medical travel destination for various innovative therapies for cancer, complex diseases, and rare diseases.