Today, the first " cartilage incomplete care day" event in the country was officially launched at Xinhua Hospital affiliated to Shanghai Jiaotong University School of Medicine, calling on all sectors of society to pay attention to this rare disease. Cartilage hypoplasia (ACH) is the main reason for short limb shortness. Due to the lack of epidemiological data and sufficient clinical research, tens of thousands of patients with cartilage hypoplasia in China have long faced problems such as lack of effective diagnosis and treatment methods, lack of effective drugs, and heavy economic burden on patients.
"There is no good treatment method, only follow-up"
Why is October 3 selected? Shen Jiliang, the initiator of "One Meter Three Vision" and a family member of a patient with cartilage hypoplasia, brought his story. "October 3rd of each year is the day when families of patients with cartilage aches in our country are gathered together. This tradition has been going on for many years." "One meter 3" is a unique perspective for ACH patients. Shen Jiliang said that signs have been found during the prenatal examination before the child was born. "At that time, through the ultrasound examination, I felt that the child's femur development was relatively short, but because my wife and I were not tall, I didn't pay enough attention."
Less than 3 months after the birth of the child, Shen Jiliang took the child to Children's Hospital Affiliated to Zhejiang University School of Medicine for examination. Fortunately, the doctor who received the doctor had been exposed to cases of cartilage hypoplasia abroad and was immediately diagnosed. This is the first time Shen Jiliang heard about this disease. "The doctor told us that there is no good treatment method at present, so we can only follow up." After returning home, Shen Jiliang wanted to find a family with the same problems. However, after searching on QQ for half a year, he only found four patients. One of the children died of severe respiratory failure at 19 months. "At that time, everyone thought that this disease was just a short appearance, and then gradually learned that it would have an impact on many organs and tissues such as bones and nerves."
What worried parents not only was the disease itself, but also the academic, mental health and other problems faced by children as they grew up. To this end, Shen Jiliang called for the launch of the "10.3 Caring Day for Carcinoma of Carcinoma", hoping to encourage more ACH groups to dare to break through themselves, and hope that all sectors of society will give more attention and care to the rare disease people.
Expert consensus that rare diseases can be diagnosed and treated
Xinhua Hospital Executive Director Yu Yongguo, Executive Director of the Clinical Genetic Center of Xinhua Hospital, has been committed to the research and clinical diagnosis and treatment of cartilage insufficiency for many years. He told the reporter of Jiefang Daily Shangguan News, "Cartilage insufficiency is not just a short stature, but a rare endocrine disease involving multiple systems, which is fatal and disable. Patients will experience serious neurological and skeletal system complications and comorbidities at different ages. Parents need to pay attention. "
Under the leadership of China Rare Disease Alliance , China's first epidemiological study on chondrome developmental achesm was launched in 2020 and has continued to this day: including launching the China Cartilage Depthymosis Multi-Center Patient Registration Research (ApproaCH) project, establishing a cohort of Achesm patients in China, and promoting the release of the first "Expert Consensus on Diagnosis and Treatment of Cartilage Depthymosis", gathering forces from all parties to promote the diagnosis, treatment and access of tens of thousands of patients with cartilage depthymosis in China.
Xinhua Hospital is the leading unit of ApproaCH research. Gu Xuefan, the main investigator of the project, the leader of the cartilage acheology group of the China Rare Disease Alliance and the director of the Shanghai Children's Rare Disease Diagnosis and Treatment Center, admitted frankly, "The lack of basic epidemiological data has always been a major problem in overcoming rare diseases. The ApproaCH project is a basic registration study that helps us understand the appearance of ACH disease - understanding the epidemiological distribution characteristics, growth curves, disease burden and quality of life of ACH patients in China, which is of great significance to both doctors and patients. It is conducive to improving the ability to diagnose and treat diseases and promoting the research and development of new drugs. "
Severe patients require surgery, and related drugs enter clinical trials
Yu Yongguo said that in fact, the public still has many misunderstandings or blind spots in their cognition about cartilage underdevelopment. "In the past, most of them were collectively referred to as 'dwarfism', but there are actually more than 500 diseases related to bone development. In addition to the dominant height, face, and gait abnormalities, spinal stenosis at the junction of the craniocervical is the biggest life threat to patients."To this end, the Xinhua Hospital team took the lead in proposing an assessment of level 0 to 4. Level 0 is asymptomatic, and level 1 to 3 requires follow-up, and electrophysiological treatment, respiratory function evaluation, etc. are carried out according to the condition. If you reach level 4, surgery is required as soon as possible. "If you do not seek medical treatment in time, the mortality rate of level 4 patients can reach 7.5%. At present, the center has screened 41 patients, of which 8 were evaluated as Level 4, which requires the common and extensive attention of the patient's family and society. "
" Li Linkang, executive chairman of the China Rare Disease Alliance, said, "In recent years, the country has continuously introduced policies to encourage rare diseases research and drug protection, and great progress has been made around diseases of cartilage insufficiency. "As an important participant in drug research in the field of ACH, Weisheng Pharmaceutical targets TransCon, a drug for the treatment of chondrotal hypoplasia. CNP is in the Phase 2 clinical trial stage. In 2020, the company signed a five-year strategic cooperation agreement with the China Rare Disease Alliance, launching China's first epidemiological research project for chondrogenic achessis, including ApproaCH research, and join hands with industry, education, research, patient organizations and other parties to jointly overcome this rare disease.
As an important event of this year's "Caring Day for Caring for Caring for the Chinese Rare Disease Alliance, directed by the "One Meter Three Vision", and sponsored by Weisheng Pharmaceutical The first "Extraordinary Vision" photography competition also ended successfully online on the eve of Care Day. During the event, a total of 85 submissions from families of patients with cartilage hypoplasia were received, totaling nearly 500 photographs and the patient stories behind the photos. Mr. Lu Anbang, CEO and Director of Weisheng Pharmaceutical, said, "The submissions from families of ACH across the country are moving, showing their courage to show their extraordinary attitude towards life, promoting positive social positive energy, and wishing ACH patients a brighter tomorrow. ”
column editor: Gu Yong
Source: Author: Boxer Yangzi
