Collaborative efforts bring hope to China's rare-disease patients

BEIJING, July 24 (Xinhua) -- With her lovely face and sweet voice, Wang Yi'ou might seem like an ordinary person, aside from her diminutive stature, standing at a mere 1.4 meters tall. However, this 42-year-old lives with brittle bone disease and recently captured the spotlight with her exceptional hosting at a forum on global health in Beijing.

Brittle bone disease, a genetic disorder recognized as a rare disease by Chinese health authorities in 2018, affects approximately 1 in 10,000 people. In China, individuals like Wang are referred to as "ciwawa" or "porcelain dolls," a term that, while endearing, reflects their fragile condition, in which even a minor accident can result in a broken bone.

Wang, founder of the Illness Challenge Foundation, a Beijing-based non-profit organization dedicated to rare diseases, left her job in 2008 to champion patients like herself. She has since been committed to raising awareness and advocating for an equitable and supportive social environment.

"At that time, awareness of rare diseases in China was minimal," Wang noted. "Now, thanks to the joint efforts across the country, there has been a positive shift."

CHINESE SOLUTIONS

According to a report released this year on China's rare-disease industry, there are now more than 7,000 identified rare diseases across the globe, impacting over 20 million Chinese patients. It is estimated that more than 200,000 new cases are diagnosed in the country each year.

While they present a global challenge due to the complexities of diagnosis and treatment, China has made significant strides under the guidance of Healthy China 2030, a comprehensive national strategy and vision for improving public health and healthcare issued in 2016. Such improvements bring new hope to patients and their families grappling with rare diseases.

A survey by the China Alliance for Rare Diseases revealed that the average time that rare-disease patients in China must wait before getting a diagnosis is four years or longer, while some remain undiagnosed for life. To address this problem, the Peking Union Medical College Hospital (PUMCH), a leader nationally in advancing the study and treatment of rare diseases, launched a Multidisciplinary Team (MDT) consultation center in February 2019, offering "one-stop" medical services that streamline patient care across specialties.

As of June this year, 245 MDT consultations had been conducted, spanning more than 160 diseases, with over 300 well-known experts participating in developing comprehensive treatment plans tailored to different patients, according to Zhang Shuyang, president of PUMCH and a pioneer in China's efforts to tackle rare diseases.

"The new model has cut diagnosis time to less than four weeks and decreased costs by over 90 percent," she said.

Expanding on this innovation, a collaborative network connecting hundreds of hospitals across China has been set up to facilitate improved diagnostics and treatments via telemedicine, physician training and patient education.

"Only China has implemented such a distinctive model with the support and guidance of the government," Zhang noted, highlighting the increase in participating medical institutions from 324 in 2019 to 419 this year.

"It must be said that what China is doing today is truly transformative," said Durhane Wong-Rieger, president of the Canadian Organization for Rare Disorders. "The thing we can all learn from is how to integrate the care from diagnosis all the way through to actually getting access to care and treatment."

Meanwhile, China is also advancing the diagnosis and treatment of rare diseases using new technologies like AI. Zhang disclosed that the large language model developed by PUMCH utilizes over 7,000 rare-disease phenotypes as foundational data, enabling doctors to make diagnoses based on a range of patient symptoms.

ENHANCED ACCESSIBILITY

Research indicates that less than 10 percent of known rare diseases globally have effective drug treatments, meaning the lack of medicine is a common challenge for patients.

With the Chinese government introducing a series of policy measures to spur drug R&D, the past five years have witnessed a notable increase in market approvals for rare-disease medications.

In September 2023, China updated its rare-disease catalog, with the total number of rare diseases included in the catalog reaching 207. By the end of last year, 165 drugs covering 92 rare diseases had been approved for entry into the market across China.

As it takes at least a decade to develop a rare-disease drug, China is stepping up efforts to import overseas treatments. More than 40 overseas rare-disease drugs were unveiled at the sixth China International Import Expo in Shanghai last year.

Over the next five years, British biopharmaceutical company AstraZeneca plans to launch over 10 new products tailored to the needs of patients with rare diseases, according to Hu Yiqing, vice-president of AstraZeneca China and head of its rare-diseases business unit.

"Our R&D efforts are synchronized globally, ensuring that Chinese patients can participate in phase III clinical trials for all ongoing drug developments concurrently, granting them timely access to cutting-edge therapeutic solutions," Hu explained.

China has also established pilot zones in various regions, such as the Beijing Tianzhu Comprehensive Bonded Zone and the Boao Lecheng International Medical Tourism Pilot Zone in Hainan Province. These zones enable the use within designated medical institutions of medical devices and pharmaceuticals licensed abroad but not yet approved in China for treatment.

Still, the sky-high prices of some rare-disease drugs are enough to keep patients away. China is actively exploring ways to build a multi-level medical security system, including basic medical insurance, commercial insurance, social charity and special funds to support and assist patients with rare diseases. Trials have already been carried out in the provinces of Shandong, Jiangsu, Zhejiang and Guangdong.

FUTURE DIRECTIONS

The importance of advancing rare-disease research, treatment and drug accessibility was once again highlighted in China's government work report earlier this year, showing the country's resolve to relieve the plight of people with rare conditions.

"The Chinese solutions for rare-disease diagnosis, treatment, R&D and security system not only needs the government's support, but also requires close collaboration among hospitals, research institutions, pharmaceutical companies and patient organizations," Zhang said.

Other industry insiders have also called for greater international cooperation and innovation by sharing medical resources, strengthening expert exchanges, promoting scientific research cooperation and expanding drug development and supply to benefit more patients.

"My only plea is how do we share more of what's happening in China with the rest of the world," said Durhane, "Not just in terms of the diagnosis，but also in terms of the huge progress has been made in terms of being able to care for people and care for them well and rapidly."