The “Expert Consensus on Diagnosis and Treatment of ACH" in China Released at 2020 China Conference on Rare Disease

2020-10-26

Introduction:

The“Expert Consensus on Diagnosis and Treatment of ACH" in China, initiated by the China Alliance for Rare Diseases (CHARD) and jointly developed by experts from Endocrine, Genetics and Metabolism Team and Rare Disease Team under the Chinese Pediatric Society of Chinese Medical Association, and ACH (Achondroplasia) Team under CARD, is unveiled at the 2020 China Conference on Rare Disease.

The guests conducted in-depth exchanges, focusing on the prevention and treatment of rare diseases, big data platform construction, innovation and availability of rare disease drugs, promotion of treatment availability through WIT-MED, the innovation of the collaboration model in diagnosis and treatment of rare diseases, drug innovation and R&D, diagnostic technology and application, international collaboration in the field of rare diseases, and patient-centered health ecosystem for rare disease and other topics. During the conference, Professor Gu Xuefan, head of the ACH Team of CHARD, was invited to make the speech about the "Chinese Expert Consensus on Diagnosis and Treatment of ACH". 

Text:

The 2020 China Conference on Rare Diseases, organized by CHARD, was held in Beijing on October 24-25. Professor Qiao Jie, Member of Chinese Academy of Engineering, Deputy Executive Director of Peking University Health Science Center, and Director of Peking University Third Hospital, together with Professor Zhang Xue, Member of Chinese Academy of Engineering and President of Harbin Medical University, attended the conference and delivered speeches.

The guests conducted in-depth exchanges, focusing on the prevention and treatment of rare diseases, big data platform construction, innovation and availability of rare disease drugs, promotion of treatment availability through WIT-MED, the innovation of the collaboration model in diagnosis and treatment of rare diseases, drug innovation and R&D, diagnostic technology and application, international collaboration in the field of rare diseases, and patient-centered health ecosystem for rare disease and other topics. During the conference, Professor Gu Xuefan, head of the ACH Team of CHARD, was invited to make the speech about the first "Chinese Expert Consensus on Diagnosis and Treatment of ACH".

 Collective Wisdom Provides Chinese Solution for Management of ACH Diagnosis and Treatment

The Consensus was initiated by CHARD, who gathered 18 authoritative experts and scholars from health policy development, rare disease diagnosis and treatment, drug evaluation, Healthcare Technology Assessment, and other related fields in the endocrinologic, hereditary and metabolic diseases areas. The “Consensus” was drafted by Professor Yu Yongguo from Xinhua Hospital Affiliated to Jiao Tong University School of Medicine, and finalized by Professor Gu Xuefan from Xinhua Hospital Affiliated to Jiao Tong University School of Medicine and Professor Zhang Shuyang from Peking Union Medical College Hospital.

"The‘Consensus’ refers to the latest research progress, consensus and guidelines at home and abroad, as well as the growth curve of 210 pediatric patients with ACH in China, which was created during previous investigations. It is the result of combined wisdom,” said Professor Yu Yongguo. “As the first expert consensus on ACH in China, we hope that it will provide a Chinese solution for the diagnosis and treatment of ACH."

Fill the gaps in Clinical Guideline, Promote the Level of Diagnosis and Treatment of ACH

Achondroplasia (ACH) is a congenital dysplasia caused by endochondral ossification. It is a rare disease that can lead to death, disability, and developmental diseases in children. The incidence of ACH is 1:25,000 among live births1. ACH mainly affects linear bone growth. Typical clinical manifestations include disproportionately short stature and a series of skeletal, neurological complications. Patients face significant pressure, both physically and psychologically, and it is difficult for them to integrate into society 1..

"At present, rare diseases are receiving more and more attention, and we have made rapid development in clinical research, treatment innovation, and drug availability in China," said Li Linkang, Executive Director of China Alliance for Rare Disease and Vice President of Chinese Hospital Association. “However, we still face many challenges. Take ACH as an example – it faces lack of epidemiological data, effective therapeutic drugs and standardized treatment methods, as well as the lack of relevant expertise and clinical experience among Chinese doctors. To this end, CHARD initiated the ‘Expert Consensus on Diagnosis and Treatment of ACH’ and conducted a multicenter patient registry study (ApproaCH) to provide professional guidance on diagnosis and management of ACH in China, thus filling the gaps in this area, facilitating standard-setting and capacity enhancement, promoting the development of the prevention and protection of rare diseases in China, and ultimately benefiting patients with ACH."

"The development of the Consensus offers an extremely high value in facilitating standardized diagnosis and treatment of ACH, and should be rolled out clinically," said Pony Lu, CEO of VISEN Pharmaceuticals: "As a company that focuses on the disease of ACH, we are delighted to see the development of the ‘Consensus’ in this field. In the future, it will provide authoritative and professional guidance on standardized clinical diagnosis and treatment of ACH in China, thereby promoting the overall level of diagnosis and treatment of ACH in China, and ultimately benefiting more Chinese patients."


References:

[1] Pauli RM. Orphanet J Rare Dis. 2019;14(1):1-49