Economic Observer reporter Qu YixianOn July 30, high-risk screening for lysosomal storage disease (a general term for a class of super rare diseases) The investigation project announced the results two years after its launch: it currently covers 415 hospitals in 31 provinces, cities and regions across the country, testing more than 12,000 blood samples from patients free of charge, and about 600 potentially suspected high-risk patients have been diagnosed.
Lysosomal storage disorders (LSDs) are a group of rare inherited metabolic disorders that typically include Gaucher disease, Pompe disease, Fabry disease, and mucopolysaccharide storage disorders. Accumulation disease, the pathogenesis of this type of disease, is all due to the loss of enzyme activity and the inability to metabolize the metabolic waste produced by the human body, thus making it difficult to maintain the stability of the human body’s internal environment and causing damage to multiple organs.
There are more than 7,000 rare diseases known worldwide. General rare diseases are defined as the incidence rate of about 1 in 10,000, super rare diseases refer to the incidence rate of about 1 in 1 million, Gaucher disease, Pompe disease, Fabry disease and mucopolysaccharidosis type I are in The number of patients in China is in the hundreds, and these diseases are typical “ultra-rare diseases”.
In May 2020, the lysosomal storage disease high-risk screening project sponsored by Beijing Health Promotion Association and co-organized by Sanofi and PerkinElmer was launched. Free public welfare screening for “super rare disease” high-risk groups such as Xie’s disease, Pompe disease, Fabry disease, and mucopolysaccharidosis type I with the number of patients on the order of hundreds , and complete the above-mentioned related tests for potential LSDs patients (including dry blood filter paper enzymatic test + biomarker test + gene test) to help Chinese patients who meet the inclusion/exclusion criteria get timely auxiliary diagnosis.
So far, the project has completed two years of practice, and is now launching its third session. Since last year, the screening program has added Fabry disease family screening, focusing on the causative gene in the family, and expanding the screening. Of the 403 blood samples tested, about 110 Fabry patients were screened.
Family screening data of Fabry disease at Children’s Hospital Affiliated to Zhejiang University School of Medicine showed that among 9 families diagnosed with genetic mutation of Fabry disease, 47 were found to carry the mutated gene of family members, an average of 5.2 patients can be identified by each Fabry proband.
Shandong University Qilu Hospital is also participating in and promoting the screening of Pompe disease. In May this year, the SORT project, led by Qilu Hospital and involving more than 30 hospitals in 13 provinces and 2 cities in northern China, was officially launched. So far, the project has screened 179 samples and confirmed 3 Pompe disease patients.
It is worth noting that although they are “super rare diseases”, the above four diseases are also among the few rare diseases that can be diagnosed and treated, and there are related drugs in China. Listed, and included in the multi-regional medical insurance.
Yu Lei, Head of Rare Diseases and Rare Blood Diseases of Sanofi Global Business Unit in China, said that Sanofi is a pharmaceutical company, but as a company that is deeply involved in the field of rare diseases For pharmaceutical companies, Sanofi is not just a drug provider. Generally, drug providers are engaged in R&D, production, and promotion of drugs. In the field of rare diseases, Sanofi is also one of the builders of the rare disease diagnosis and treatment and payment system in China.
Previously, the China Lysosomal Storage Disorders (LSDs) Diagnosis and Treatment Capacity Building Project, co-sponsored by China Rare Disease Alliance and other organizations and supported by Sanofi, was launched in February 2020. Launched on International Rare Disease Day.
Yu Lei told the Economic Observation Network that the Lysosomal Storage Disease Diagnosis and Treatment Collaboration Network is a project aimed at improving the diagnosis and treatment capabilities of clinicians. Compared with the high-risk screening project, the former More like software construction, which is more like hardware construction.
Because doctors treating rare diseases are rarer than rare patients, it is important to create a collaborative group to find where
What kind of diseases can these doctors treat, and regularly exchange screening, diagnosis and treatment experience, so that the diagnosis and treatment ability of this kind of diseases will become higher and higher, and the clinical Software capabilities are getting stronger and stronger. The high-risk screening program is a clinical “weapon”, allowing patients to be diagnosed and treated early.
Professor Mao Jianhua, vice president of Children’s Hospital Affiliated to Zhejiang University School of Medicine, shared a patient story. The diagnosis of Fabre’s child Huhu (pseudonym) and his family benefited from the High-risk screening program for lysosomal storage diseases.
From the age of 3, Huhu began to drink and urinate more for unknown reasons. He drank up to 6L of water a day, and the urine volume reached 3-4L, while the average adult’s daily water intake was between 1-1.5L, urine output is 1-2L. Huhu frequently drank water and went to the toilet every day for seven or eight years, which seriously affected his study and life.
Mao Jianhua had seen Tiger Tiger in 2014. Combined with symptoms such as “unexplained polyuria” and “hypokalemia”, it was suspected that it was Fabry disease. It is not popular, and it is impossible to diagnose Huhu. It can only temporarily relieve the symptoms of polyuria by drugs.
After the high-risk screening project was launched, Huhu’s blood sample was sent to a professional testing institution, and was later diagnosed with Fabry disease. After more than a year of treatment, Huhu’s symptoms improved significantly and he basically returned to normal life. After the pedigree screening of Huhu’s family, it was found that Huhu has a family member who is also a carrier of the Fabry disease mutation gene.
Based on personal work, Mao Jianhua said that the screening program has made progress in practice but still faces challenges. The first is that medical staff still need to be familiar with the medical knowledge of rare diseases. The incidence of rare diseases is low and the symptoms are not typical. It takes time for medical staff to understand rare diseases and become familiar with the relevant clinical manifestations of rare diseases in order to achieve early identification. Second, the workload of family screening is also relatively large, and clinicians need More energy needs to be put into implementation; thirdly, the awareness of rare diseases among patients and their families and even the whole society still needs to be improved.