China increases accessibility to rare disease treatment

CHENGDU -- Two-and-half-year-old Xuanxuan survived a rare kidney disease in early December, thanks to fast-track approval of the transplant.

The baby was diagnosed with Denys-drash syndrome, a fatal disease with fewer than 500 cases reported worldwide. The baby's symptoms had worsened in November, but he was not eligible for a transplant at the time.

Finally, local pediatricians in Southwest China's Sichuan province applied to the national transplant ethics commission and obtained special permission for the transplant.

This is part of China's intensified efforts to rescue about 20 million patients with rare diseases in the country.

More than 200,000 people in China are diagnosed with such diseases every year, often struggling due to limited treatment methods and sky-high medical expenses.

To speed up drug approvals, the National Medical Products Administration (NMPA) is designating rare disease medicines with a priority review. More than 60 rare-disease drugs have been approved for marketing in China, according to official data.

The country's national drug regulator has pledged to greenlight rare disease medicines -- with urgent clinical needs -- available in the overseas market but have not yet been marketed in China within 70 days.

Among the 81 overseas drugs with urgent clinical needs listed by NMPA, more than half are for rare diseases, and 26 of them have already been approved for use, said Chen Shifei, deputy head of NMPA.

Recently, a tear-jerking video showing how a national health insurance negotiator helped cut down the bidding price of Spinraza from over 53,680 yuan ($8,422) per dose to 33,000 yuan went viral online and was lauded by netizens. Spinraza, a medicine for spinal muscular atrophy (SMA), was once priced at a whopping 700,000 yuan.

In the video, a female negotiator is seen fervently persuading to get a lesser price for the medication. "Have you given your best?" "Already tried your utmost?" "I hope you can do more!" -- she said repeatedly.

Maomao, a three-year-old SMA patient in east China's Jiangxi Province, will be benefiting from this deal. "It took just two years for the medicine to be included in the reimbursement list since it was approved," said Maomao's mother. "It's a miracle."

At a two-day conference on rare diseases that concluded on Dec. 19, Li Tao, deputy head of the National Healthcare Security Administration, said that seven rare-disease medicines were included in the country's medicare reimbursement list in 2021, with an average price reduction of 65 percent.

Currently, more than 40 rare disease medicines are eligible for reimbursement, remarkably reducing the medical expenses for patients.

China is also striving to improve the diagnosis and treatment of rare diseases. More than 500 collaborative research works on rare diseases are underway in the country's national key labs and translational medicine centers.

Speaking at the conference, Zhang Shuyang, president of Peking Union Medical Hospital, said China's clinical research on rare diseases has been updated into a collaborative innovation system, achieving multiple breakthroughs in genetic mechanism, diagnostic markers, clinical typing and pathogenesis.

A total of 600,000 rare disease patients have been registered in two national databases, providing researchers and clinicians with urgently needed epidemiological data, Zhang noted.

Patients like Xuanxuan and Maomao are likely to have a challenging future but they can certainly expect all needed support.

"Xuanxuan has gone over the hump, the most difficult one," said Mao Yu, a pediatrician at the Sichuan Provincial People's Hospital, adding that despite all the challenges, they will do their best to save every life.