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New hope offered to rare disease patients

By ZHOU WENTING in Shanghai | China Daily | Updated: 2021-12-14 08:18
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Children with rare diseases are taken on a trip in Anhui province in June. [Photo by Shi Yalei/For China Daily]

Destiny changed

According to experts, the Biogen injection benefits SMA patients of all types and at all stages of the disease.

Xiong Hui, deputy director of pediatrics at Peking University First Hospital, said: "In the past, after diagnosis we could only tell parents that we didn't have an effective cure. But now, with such therapies, we can confidently say we can change patients' survival chances and their quality of life.

"Also, medication administered early will always do better. It's hard for those who have already developed muscular atrophy, severe muscle weakness and even spinal joint deformities to run and jump like their peers of the same age," said Xiong, who is also a member of the standing committee of the Beijing Medical Association's rare disease branch.

Clinical trials of Biogen's therapy to treat SMA found that young people showed obvious changes in their physical function, cognitive function and social skills after six months of medication.

Xing said: "A 2-year-old girl with SMA crawled for the first time after undergoing a course of injections for three months."

Mao Jianhua, vice-president of the Children's Hospital at Zhejiang University School of Medicine, said there has long been a severe shortage of doctors able to diagnose rare diseases.

In Shanghai last month, during discussions by experts at an event held by pharmaceutical company Sanofi Genzyme China, Mao said, "When the medication needs of more patients with rare diseases are met, more doctors will have the confidence to learn more about these diseases.

"They will be confident of using a standardized diagnosis and treatment model and jointly helping improve the country's overall ability in rare disease diagnoses and treatment."

Wang Lin, secretary-general of the joint meeting of chairpersons of national rare disease academic groups, said: "The inclusion of rare disease therapies on the National Reimbursement Drug List will help medical insurance play a leading role in the research and development of drugs to treat such diseases. It will also encourage more pharmaceutical companies to conduct R&D on new drugs based on clinical needs."

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