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A themed activity is held in Beijing on Tuesday to raise awareness and generate action for patients with rare diseases. Rare Disease Day falls on the last day of February every year.Hou Jianpeng / For China Daily

Patients with rare diseases have trouble getting effective and sustainable treatment in China, despite recent efforts to expedite drug approval and expand tax breaks, said a report released on Thursday.

The last day of February is recognized as Rare Disease Day by countries around the world.

China launched its first medical catalog on rare diseases in May last year, covering 121 conditions that afflict about 3 million people in the country.

About 160 drugs targeting 74 rare diseases have been developed overseas, and 83 have gained market approval in China, according to the report, which was published in Beijing on Thursday.

However, it noted that roughly one-third of the drugs cleared for the Chinese market are not adequately prescribed to patients in need because they are not officially designated medications.

"Doctors might refrain from issuing these de facto effective and safe drugs if official designations are not in place," said Huang Rufang, director of the Chinese Organization for Rare Disorders.

The report was issued by the organization and IQVIA, a health data research company.

Financial burdens can also pile up during long-term treatments. Under the current national medical insurance system, only 29 rare disease drugs are eligible for national reimbursement.

Diagnosis and treatment of the 7,000 known rare diseases is a thorny issue around the globe. Effective therapy options are available for less than 10 percent of these conditions, the report said.

It suggested a host of measures to help advance access to rare disease drugs in China, including setting up a new office to manage related funds, updating rare disease catalogs, supporting domestic drug development and capping payments by an individual patient at 80,000 yuan ($12,000) annually.

"We call for the establishment of a national action plan dedicated solely to addressing issues confronting patients with rare diseases," Huang said.

At least seven countries, including France, India, Brazil and Australia, have rolled out similar large-scale plans that offer incentives for pharmaceutical companies to develop new drugs and stronger safety nets for patients.

In recent years, China has stepped up its efforts to improve the well-being of patients with rare and neglected ailments.

The National Medical Products Administration has been streamlining and accelerating market approval procedures for overseas drugs, including some for rare diseases, in a bid to introduce effective treatments more quickly and at lower cost.

Earlier this month, a statement from the State Council said the value-added tax on 21 drugs for rare conditions will be cut to 3 percent. The tax break took effect on Friday.

The first guidebook on the diagnosis and treatment of rare diseases in China was released on Wednesday. Led by Peking Union Medical College Hospital, a top hospital in China, the guide covers all 121 rare diseases specified in the catalog, Huang said.

Zhang Zongjiu, chief of medical administration and supervision at the National Health Commission, said the guide will be of great significance to help medical staff better identify, diagnose and treat rare diseases.

He said that despite the lower incidence of rare diseases compared with commonly seen ones, the total number of people with such diseases is still large simply because of China"s large population. However, such patients in China face many difficulties in getting accurate diagnoses and treatments, because of a lack of ability and experience at many medical institutions and a lack of available drugs.

According to Zhang Shuyang, vice-president of the China Alliance of Rare Diseases and vice-president of Peking Union Medical College Hospital, "Every patient will cause a direct impact to at least six or seven other family members. So in total one-10th or even more people may be affected by rare diseases in China," she said.

Wang Yi"ou, founder of China-Dolls Center for Rare Disorders, a Beijing-based NGO that advocates for the rights of patients with rare diseases, said many such people in China want to see more policies implemented to help them relieve the financial burden of medical expenses.

For example, nearly 60 percent of patients with Gaucher disease, a rare genetic disorder that results in serious bone damage and even death, have been misdiagnosed, and they face heavy financial pressure in treating the disease, according to a report released by Chinese University of Hong Kong on Sunday.

Zou Zhengtao, a 31-year-old who was diagnosed with Gaucher disease when he was 2 years old, said he"s had to rely on cerezyme, an injected drug developed by French pharmaceutical company Sanofi, to remain in stable condition.

However, he was luckier than many other patients with the disease, as he was covered by a charity program from China Charity Federation and is subsidized by the company, so he gets free drugs for life.

"Otherwise it would be impossible for me to afford the drug, as it costs more than a million yuan a year," he said. "The drug has not been included in basic medical insurance programs in most places in China."


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