China's rare disease definition research report released: rare diseases with fewer than 140,000 patients

September 11, "Chinese definition of rare disease research report 2021" published in Shanghai, the report first proposed the "Chinese version of the definition of a rare disease in 2021," that should be "neonatal morbidity will be less than 1 / million and the prevalence of less than 1 /10,000, diseases with less than 140,000 patients" are listed as rare diseases
.

"Diseases with a neonatal morbidity rate of less than 10,000, a prevalence rate of less than 10,000, and a number of patients less than 140,000" are listed as rare diseases
.

In 2010, the Medical Genetics Branch of the Chinese Medical Association once formulated the Chinese definition of "prevalence rate less than 1/500,000 or neonatal incidence rate less than 1/10,000" as a rare disease.
This is regarded as a "zero" breakthrough in history.
Has been used all the time
.

This report is the first update of the definition of a rare disease since 2010

"For a long time, the definition of rare diseases in China has never been resolved
.

Rare diseases are not a medical classification, but a type of disease.

2021 Chinese Rare Disease Definition Research Report

In addition, compared with other countries, there is only incidence and prevalence.
Some countries differ only in the number of patients.
Only the Chinese version of the definition of rare diseases satisfies the full life cycle of patients , and there are several epidemiological statistics that have real data.
Condition
.

Wang Lin said that rare diseases have many kinds of diseases, but not the absolute number of people suffering from them

Only the Chinese version of the definition of rare diseases satisfies the entire life cycle of covering patients.

The other 1/10000 is because 111 of the 121 "Catalogues" have a prevalence of less than 1/10000, and cover the most classic rare diseases, which is to satisfy the interests of the vast majority of patients
.

And 140,000 means that the total number of patients of a single disease cannot exceed 140,000, and it is not a rare disease if it exceeds
.

"We have calculated this according to the rare diseases defined in the 2021 report.

In addition, after the redefinition of rare diseases, orphan drugs also need to have a standard suitable for national conditions, so that China's rare disease prevention and control can be standardized and institutionalized
.

Huang Guoying, chairman of the Rare Diseases Committee of the Shanghai Medical Association and dean of the Children’s Hospital of Fudan University, said that at present, drug research and development for rare diseases is receiving attention, and more and more global multi-center clinical phase III drug trials have landed in China.
Many drugs are used for the treatment of rare diseases
.

However, although there are 121 kinds of drugs for rare diseases currently implemented, some treatable diseases are not included in the list; there are still many rare diseases without treatment drugs, and rare disease drugs with treatment methods are often more expensive and fail to enter the medical insurance or Commercial insurance has a huge burden on families and patients' families

"Internationally, orphan drugs were first associated with rare diseases
.

Orphan drugs are one of the keys to solving the problem of rare diseases.

The experience of other countries is usually through the definition of orphan drugs, encouraging more companies to have the motivation to invest in research and development and launch new drugs

"With the advancement of medicine and the continuous improvement of people's awareness of rare diseases, not only the original definition of rare diseases in China needs to be revised, but the rare disease catalog approach to promote the prevention and protection of rare diseases is no longer sufficient for the development of rare disease medicine.
policy development and demand , China needs to promote the cause of rare diseases in the standardization and institutionalization, based on the rule of law
.

"national health rare disease clinics and health committee member of the Committee of experts to protect rare disease control director John Reading foundation, told reporters in Shanghai, The next step is to advance legislation in Shanghai to provide a reference for national legislation
.

Only using the rare disease catalog to promote the prevention and protection of rare diseases can no longer meet the needs of the development of rare disease medicine and policy formulation.
The next step is to advance legislation in Shanghai to provide a reference for national legislation
.

"Therefore, defining rare diseases today is just the beginning.
It is foreseeable that there will be many challenges in the future, but as eleven years ago, we will continue to work hard to promote the cause of rare diseases in China
.
" Li Dingguo said
.