China News Client, Beijing, May 15 (Reporter Zhang Ni) Over 40% of patients have not received any treatment after diagnosis, more than half of their lives cannot be fully taken care of themselves, and specific treatment drugs are expensive ... On the 15th, the first domestic mucopolysaccharide The survival report of patients with storage disease was released, which revealed the current status of this rare disease group.

  Experts in the industry called for the help of this special group to improve the diagnosis and treatment system for rare diseases in China, and to ensure that the "last mile" for patients with rare diseases is accessible and affordable.

In the picture, the Xinshe News Agency issued Wei Liangshe

Families with difficult diagnosis and high costs face survival difficulties

  Every year on May 15th is "International Mucopolysaccharide Care Day". Mucopolysaccharidoses (Mucopolysaccharidoses, hereinafter referred to as "MPS") is a rare, progressively disabling, lethal X-linked recessive genetic disease that has been included in China's first list of rare diseases in 2018.

  The disease is a type of lysosomal storage disease, mainly caused by gene mutations, and the prevalence rate is about one in 100,000. The patient's body will show symptoms such as joint stiffness, corneal turbidity, hepatosplenomegaly, and airway obstruction, which will bring great pain and inconvenience to life. According to reports, in China, the initial estimate of the number of patients with mucopolysaccharidosis is over 10,000.

  On the 15th, "Analysis of the Survival Status of Chinese Rare Disease Patients from Mucopolysaccharidosis" (hereinafter referred to as "" Report ") was officially released.

  The "Report" was led by the Shanghai Rare Disease Prevention and Treatment Foundation, the Shanghai Health and Health Development Research Center, the Shanghai Medical Association Rare Disease Specialty Branch, and the Pediatric Branch of the Chinese Medical Association, and was received by Beijing Zhengyu Mucopolysaccharide Rare Disease Care Center Assistance, and support from Beihai Kangcheng, Baiao Wanli, Sanofi and other enterprises.

  According to reports, the "Report" is China's first and the world's largest sample of MPS patient group survival status survey, a total of 180 patients participated, covering patient information, diagnosis experience, disease characteristics, treatment experience, quality of life, patient burden six Dimension, involving multiple parties such as clinical societies, research institutions and patient organizations.

  The "Report" found that families of MPS patients in China face several practical problems, such as difficult diagnosis, lack of treatment, heavy burden of care, and high cost.

  The survey showed that MPS patients consulted on average 6 times before diagnosis, up to 50 times. The number of misdiagnoses can be up to 24, and the time used can be up to 69 months.

  In addition, due to the lack of effective specific drug treatment in China, 41% of patients did not receive any treatment after diagnosis, 47% of patients could only treat symptomatically, and even 8.95% of patients went away in order to receive treatment with specific drugs overseas.

  In terms of care, 60% of patients have difficulty in action, 54% cannot live on their own, and 80% have difficulty in schooling, resulting in an average of 110 days of care for the family members of the patient throughout the year, and 63% must give up full-time work.

  In terms of costs, the data shows that the average total expenditure for the disease is 360,000 yuan, which is 1.61 times the annual income of the family. 68% of families spend more than 40% of the family's income on treatment. On average, they spend less than 5 months each year.

Experts call for a perfect diagnosis and treatment system for rare diseases

  How to solve the survival dilemma faced by MPS patients and their families has become the focus of industry experts.

  Jin Chunlin, director of the Shanghai Health and Health Development Research Center, believes that MPS-specific therapeutic drugs are expensive and cannot be afforded by ordinary families. This is also a common problem encountered by many rare disease medicines, and the key to solving this problem is to establish a multi-level security system, explore local medical insurance, financial support, social assistance, commercial insurance and multi-party cooperation mechanisms to prevent patients from falling into Into the dilemma of giving up treatment because of inability to pay.

  Li Dingguo, chairman of the Shanghai Rare Diseases Prevention Foundation, said that the purpose of launching this survey is to use MPS as an entry point to show the common challenges faced by Chinese patients with rare diseases, and to help further explore the establishment of a diagnosis and treatment system for rare diseases in China. To solve the problem of drug access for rare diseases.

  "We are also pleased to see that the country has begun to explore the establishment of a rare disease protection mechanism, and some provinces and cities have also introduced a rare disease drug protection policy. In the future, we hope to pass legislation to truly ensure that rare disease patients have medicines that are accessible and affordable." The last mile '. "Li Dingguo said.

  Xue Qun, Chairman and Chief Executive Officer of Beihai Kangcheng Pharmaceutical Co., Ltd., said, "As a first-to-be local company for the creation of new drugs for rare diseases, we must not only provide patients with effective treatments for rare drugs, but also actively participate in promoting rare diseases in China The construction of the ecosphere will work with all parties to promote the establishment of relevant laws and policies, especially how to solve the problems involved in the accessibility of drugs, which will ultimately benefit more patients with rare diseases and even the entire society. "

  In addition, on the 15th, experts and scholars from Shanghai Rare Disease Prevention and Treatment Foundation, Shanghai Health and Health Development Research Center, Shanghai Medical Association Rare Disease Specialty Branch, and Pediatric Branch of Chinese Medical Association participated in the "joint hand in hand, blooming together "Enzymes of Life"-Mucopolysaccharidosis disease cognition series activities were also officially launched.

  The event aims to improve doctors, patients, and the public's awareness of MPS diseases through multidisciplinary seminars on MPS, disease knowledge promotion and science popularization for patients and the public. (Finish)