Beijing-Shanghai 'Virtual' Partnership Launches on International Rare Disease Day to Build National Model for LSD Diagnosis and Treatment

Beijing, February 29, 2020 /PRNewswire/ -- The last day of February each year is International Rare Disease Day, which this year coincided with the leap day of February 29. Although 2020 began with a sudden outbreak of the epidemic, making it an "uncommon" year for everyone, the pandemic did not interrupt the attention from all sectors of society towards patients with rare diseases. The Lysosomal Storage Disorders (LSDs) Diagnosis and Treatment Capacity Building Project (hereinafter referred to as the "STEP Project"), jointly organized and initiated by the Chinese Alliance for Rare Diseases, the Beijing Society for Rare Disease Diagnosis, Treatment and Security, and the Beijing Ruiyang Bohui Public Welfare Foundation, with participation and support from Sanofi (China), was officially launched today. Strategic cooperation agreements were signed online between Beijing and Shanghai. The project aims to establish a diagnosis and treatment capacity system for specific LSDs—including Gaucher disease, Pompe disease, Fabry disease, and Mucopolysaccharidosis Type I—with a demonstration effect of "vertical coordination." It seeks to create a model for early detection, early diagnosis, treatability, and effective management in the field of rare diseases, enabling more patients with rare diseases to receive faster diagnosis and standardized treatment.

Meanwhile, a multidisciplinary team of experts from Beijing, Sichuan, Shandong, and Hebei conducted a remote multidisciplinary team (MDT) consultation for a Gaucher disease patient in Xingtai under the theme “Isolate the Virus, Not Love.” As one of the key initiatives to enhance diagnostic and treatment capabilities within the STEP project, this remote MDT consultation maximized the optimization of resource allocation and provided patients with a new pathway to timely diagnosis during the pandemic.

Multi-Regional Remote Consultations Establish an Online Green Channel for the Diagnosis and Treatment of Gaucher Disease

Dabao (a pseudonym), an 11-year-old patient with Gaucher disease from Xingtai, was diagnosed five years after his parents first noticed his abdomen progressively enlarging. In their quest to seek treatment for Dabao, his parents took him to nearly every hospital available. “We started at the village clinic, then went to the municipal hospital, and later to the provincial hospital, but no definitive diagnosis was made. It was only after we reached Peking Union Medical College Hospital in Beijing that he was finally diagnosed with Gaucher disease.”

Unfortunately, late last year, another “catastrophe” struck this family. The younger son, Xiaobao (a pseudonym), developed symptoms similar to those of his older brother—splenomegaly—and was preliminarily diagnosed with Gaucher disease at a local hospital. His parents immediately took him to Peking Union Medical College Hospital for a series of examinations. However, due to pandemic-related village lockdowns, they were unable to travel to Beijing to collect the test reports, thereby prolonging and complicating the process of confirmation and medical consultation.

Against this special backdrop, and to expedite Xiaobao’s diagnosis, the first academic platform implemented following the launch of the STEP project, coordinated by the Chinese Alliance for Rare Diseases, facilitated a multi-point interactive remote multidisciplinary team (MDT) consultation. This involved Peking Union Medical College Hospital, West China Hospital of Sichuan University, Shandong Provincial Hospital, Xingtai People’s Hospital, and Xiaobao’s home in Xingtai. The online MDT consultation enabled Xiaobao’s remote diagnosis and established a long-term follow-up plan for standardized local treatment in Xingtai.During this remote MDT consultation, Dr. Gao Wei, Director of the Department of Pediatric Hematology and Oncology at Xingtai People’s Hospital, outlined the need for the remote consultation. Dr. Qiu Zhengqing, Chief Physician in the Department of Pediatrics at Peking Union Medical College Hospital, reviewed and presented the patient’s medical history and conducted the remote patient interview. Multidisciplinary expert teams from the Departments of Neurology and Hematology, among others, at Peking Union Medical College Hospital, West China Hospital of Sichuan University, and Shandong Provincial Hospital participated in the online discussion. Leveraging the strengths of each specialty, the experts promptly evaluated the patient, confirmed the diagnosis, and exchanged views on the long-term follow-up and management plan. This approach significantly reduced the time and financial burden for the patient.

Dr. Gao Wei, Director of the Department of Pediatric Hematology and Oncology at Xingtai People’s Hospital, stated, “For patients with rare diseases living in county-level areas and for our local hospitals, multidisciplinary team (MDT) remote consultations provide strong support for timely diagnosis and standardized treatment. This approach effectively reduces misdiagnosis and inappropriate treatment, enabling patients to receive confirmed diagnoses and standardized care plans through collaborative efforts between national and local hospitals without having to travel extensively for medical attention, thereby alleviating their financial burden to some extent. Meanwhile, this MDT remote consultation for Gaucher disease has set an effective example for the tiered diagnosis and treatment management of rare diseases. As the attending physician at a local hospital, I have gained significant insights into the diagnostic evaluation and management of Gaucher disease patients with a positive family history through this exchange. I will maintain close communication with Professor Qiu in the future, which I believe will greatly help ensure that patients continue to receive standardized care.”

Gaucher disease is a lysosomal storage disorder, belonging to a group of inherited metabolic diseases within the family of rare diseases. It predominantly affects children, who often present with markedly distended abdomens and are referred to as “penguin babies.” Many such “penguin babies,” like Dabao and Xiaobao, face prolonged diagnostic delays and difficulties in accessing medical care. Due to their rarity, rare diseases are highly prone to misdiagnosis and missed diagnosis, making timely diagnosis challenging. In China, 50% of patients with Gaucher disease have been misdiagnosed, and 70% require evaluations at multiple hospitals before receiving a confirmed diagnosis.

Furthermore, patients with rare diseases in China face the harsh reality of insufficient overall diagnostic and therapeutic capabilities. Lysosomal storage disorders (LSDs), such as Gaucher disease, Pompe disease, Fabry disease, and MPS I (Mucopolysaccharidosis Type I), represent a small group of rare diseases in China that are both diagnosable and treatable. However, apart from a few major hospitals in large cities, most local hospitals have limited awareness of LSDs and restricted access to diagnostic and treatment technologies. This forces patients with rare diseases to seek medical care at multiple hospitals, resulting in significant time and effort expenditures while preventing them from receiving standardized and effective treatment.

Qiu Zhengqing, Chief Physician of the Department of Pediatrics at Peking Union Medical College Hospital, participated in an online consultation for Gaucher disease for the first time. Regarding this, she stated, “Currently, the diagnosis and treatment of lysosomal storage disorders still face challenges such as diagnostic difficulties and the difficulty in maintaining long-term standardized treatment. We hope to actively promote early diagnosis and early treatment of rare diseases through multidisciplinary exploration and multi-party collaboration, thereby enhancing the capacity for standardized diagnosis and treatment. As the national leading hospital of the Rare Disease Diagnosis and Treatment Collaboration Network, Peking Union Medical College Hospital will fully fulfill its responsibilities and mission by establishing regulations and systems, organizing training, facilitating academic exchanges, accepting patients with complex and critical conditions, transferring patients with stabilized conditions to lower-tier hospitals, and providing guidance to member hospitals. We will leverage our academic advantages to better serve patients with rare diseases and contribute to the construction of a Healthy China.”

Establishing Standards and Building Norms: A Three-Step Approach to Provide a Structured Framework for the Diagnosis and Treatment of Lysosomal Storage Disorders

Multidisciplinary Team (MDT) remote consultations have demonstrated how tiered diagnosis and treatment collaboration for rare diseases can be achieved with convenience and efficiency, while a broader collaborative network is being rolled out across China. On February 15, 2019, the General Office of the National Health Commission issued a notice on establishing the National Rare Disease Diagnosis and Treatment Collaborative Network by selecting hospitals with strong diagnostic and treatment capabilities and substantial case volumes for rare diseases. The STEP project is an implementation initiative designed to help medical institutions within this national network effectively enhance their single-disease management capabilities and address the practical needs of patients with lysosomal storage disorders (LSDs).

The STEP project plans to gradually complete the construction of a collaborative diagnosis and treatment system for single diseases of LSDs, demonstrating “vertical integration,” over the three-year period from 2020 to 2022. Specific initiatives include: (1) Establishing special committees under academic associations focused on single LSDs to set standards and develop guidelines, promoting the updating or formulation of diagnostic and therapeutic workflows and expert consensus statements, thereby providing an evidence-based foundation for clinical practice; (2) Organizing systematic and continuous training for healthcare providers and patient education programs, with modular course designs that effectively combine online and offline components, to substantially enhance disease awareness and diagnostic and therapeutic capabilities, thus establishing structured protocols for the training of physicians specializing in LSDs; (3) Forming provincial-level collaborative groups for single-disease diagnosis and treatment to organize in-province training activities, and exploring accreditation standards and evaluation models for departments, hospitals, and even medical consortiums serving as demonstration units for single-disease care, thereby enabling quality-assessed improvements in diagnostic and therapeutic capabilities.

Deputy Director Zhang Wenbao of the Medical Administration Division, Bureau of Medical Administration and Hospital Management, National Health Commission, stated: “Holding multidisciplinary consultations (MDTs) for rare diseases on International Rare Disease Day is highly meaningful. Led by Peking Union Medical College Hospital and relying on multiple hospitals within the Rare Disease Collaboration Network, these MDTs are conducted on a large scale and in a concentrated manner, combining remote and on-site consultations. This approach facilitates efficient multi-party communication and information sharing, truly fulfilling the purpose of ‘consultation,’ and provides patients with continuous, end-to-end diagnostic and therapeutic services covering screening, diagnosis, treatment, and follow-up. This represents a valuable pilot practice in implementing the tiered diagnosis and treatment system in the field of rare disease care.”

Li Linkang, Executive Chairman of the Chinese Rare Disease Alliance, stated, “We hope that through the implementation of the STEP project, we can effectively enhance tiered diagnosis and treatment collaboration for rare diseases among hospitals across China, as well as improve the diagnostic and therapeutic capabilities for patients with lysosomal storage disorders (LSDs). By fostering multi-party collaboration to empower hospitals, physicians, and patients, we aim to promote standardized clinical practices for the early detection, early diagnosis, treatability, and effective management of LSDs, including Gaucher disease, Pompe disease, Fabry disease, and MPS I. This will help slow disease progression and substantially alleviate the economic and psychological burdens imposed by these conditions on patients and their families.”

Mobilizing Multi-Sectoral Forces and Implementing Multifaceted Measures to Enhance the Diagnosis and Treatment Capacity for Rare Diseases

Enhancing the capacity for diagnosis and treatment of rare diseases is inseparable from national support. In recent years, relevant authorities have intensified prevention and control efforts for major diseases, including cancer and rare diseases, and introduced various people-benefit policies targeting rare diseases. From the release of the First Batch of Rare Diseases Catalogue by the National Health Commission on May 22, 2018, which marked China’s first official definition of rare diseases, to the announcement by the General Office of the National Health Commission in February 2019 to establish a National Rare Disease Diagnosis and Treatment Collaboration Network, and the subsequent establishment in January 2020 of the Network’s national office at Peking Union Medical College Hospital (the lead national hospital), these actions fully demonstrate the high priority placed by the Party and the state on the prevention and control of rare diseases. Although these diseases are rare, the determination to overcome them is not. In recent years, the government has continuously rolled out people-benefit policies, while various departments and organizations have actively engaged in multi-party collaboration to comprehensively build an efficient system for the diagnosis and treatment of rare diseases. Through continuous improvement and advancement, this system aims to effectively address the challenges faced by patients with rare diseases, such as difficulties in diagnosis, medication access, and medical consultations, ensuring that more patients receive timely diagnosis and standardized treatment, with access to affordable and available medicines.

Beyond this, the advancement of diagnosis and treatment for rare diseases relies on collaborative efforts among medical institutions, pharmaceutical companies, patient organizations, charitable groups, and other stakeholders, contributing from multiple dimensions. Lei Yu, Head of the Rare Disease Franchise at Sanofi China’s Specialty Care Business Unit, stated, “Addressing the challenge of rare diseases requires harnessing the spirit of mutual aid. As a pioneer in the field of rare diseases, Sanofi remains committed to addressing the treatment needs of rare disease patients in China, actively introducing innovative medicines, and working hand in hand with the government, professional societies, and various partners to explore diversified assistance models for rare disease patients. The launch of the Lysosomal Storage Disorders (LSDs) Diagnosis and Treatment Capacity Building Project (STEP), under the guidance of the Chinese Alliance for Rare Diseases, exemplifies our commitment. Moving forward, Sanofi will continue to uphold this sense of responsibility, bringing new hope to rare disease patients in China. We believe that as long as all sectors of society move together in the same direction and persist in their efforts, we can surely realize the ‘Chinese Dream’ of ensuring access to medications for all patients.”

Although rare diseases have a low incidence in the population, they are, in fact, closely relevant to everyone. Most rare diseases are caused by genetic defects, and every individual is born carrying defective genes. Therefore, paying attention to rare diseases means caring for humanity itself. The advancement of diagnosis and treatment for rare diseases requires our collective attention and efforts.