Deep 8 degree rare diseases 6 | 700,000 yuan for one injection? Gaucher disease ranks first among the 10 most expensive rare diseases

Earlier, we talked about Yaya, a 7-year-old patient in Hangzhou. She was diagnosed with SMA (spinal muscular atrophy) at the age of 2. Because there was no treatment drug, she could only do some rehabilitation care at the time. After waiting for three years, she finally got imported drugs, but one injection cost 700,000 yuan. With charity assistance, the first year's treatment cost 1.4 million yuan, and at least 700,000 yuan from the second year onwards. Such expensive drug prices were simply beyond her family's ability to afford. However, just over a year later, the annual drug cost dropped to 550,000 yuan.

Seeing the roller coaster-like drop in drug prices, many people will ask: Who sets these drug prices? Why are they so expensive in the first place?

Who sets the price for rare disease drugs?

Zou Chaochun, deputy director of the Rare Diseases Group of the Pediatrics Branch of the Chinese Medical Association, deputy director of the Rare Diseases Branch of the Zhejiang Medical Association, and deputy director of the Birth Defect and Rare Disease Diagnosis and Treatment Center of the Children's Hospital Affiliated to Zhejiang University School of Medicine, said that the pricing of rare diseases is mainly through the independent application of manufacturers (pharmaceutical companies) and submission to the government for approval. Due to the research and development costs of drugs and sales volume restrictions, the prices of some rare disease drugs are indeed relatively high at the beginning.

A staff member of a multinational pharmaceutical company said that after a new rare disease drug is developed, the price is usually at its peak when it is first launched on the market. As the years go by, pharmaceutical companies will adjust the drug price based on the future market, competitors, insurance companies, and medical insurance policies.

Take SMA as an example. There are only 29 registered patients in Hangzhou, of which 6 have passed away. With such a small patient population, the market demand for SMA specific drugs will not be as large as that for cold medicines, which means that few pharmaceutical companies are willing to invest heavily in drug research and development. Once a specific drug is developed, the price will inevitably be more expensive at the beginning because there is no competition.

Are all drugs for rare diseases “sky-high” priced?

Ding Jie, member of the National Committee of the Chinese People's Political Consultative Conference and professor of pediatrics at Peking University First Hospital, provided the results of a survey on the diagnosis and treatment costs of rare diseases. Among the rare diseases included in the "Catalog", 152 drugs cost less than 20,000 yuan/year; 25 drugs cost 20,000-100,000 yuan (inclusive)/year; 8 drugs cost 100,000-300,000 yuan (inclusive)/year; 6 drugs cost 300,000-1,000,000 yuan (inclusive)/year; and only 8 drugs cost more than 1,000,000 yuan/year.

It can be seen from this that most medicines for rare diseases are not "sky-high" and the vast majority of patients can still afford them.

When will domestic drugs for rare diseases be developed?

Professor Wu Zhiying from the Department of Neurology at the Second Hospital of Zhejiang University said that compared with developed countries, China started research on rare diseases very late. If the diagnosis of rare diseases is no different from that in Europe and the United States, then China lags far behind Europe and the United States in terms of treatment. On the one hand, due to very realistic reasons, most rare disease drugs in Europe and the United States are included in medical insurance, while the situation in various parts of China is different. On the other hand, there are still no treatment drugs for the vast majority of rare diseases. At present, almost all the drugs we use are invented by large foreign pharmaceutical companies. We should start our own innovative research from the source and strive for breakthroughs in treatment.

The Neurological Research Center of Zhejiang University Second Hospital is also actively involved in drug development and clinical trials, but compared with other diseases, it is very difficult to apply for research funding for rare diseases. She called on my country to increase investment in the research of genetic diseases and rare diseases, and also hoped that all sectors of society could actively donate to the research of rare diseases, find therapeutic targets, and find more therapeutic drugs for rare diseases. "Only by doing this can we be on par with Europe and the United States."

Ranking of the 10 rare diseases with the highest annual drug costs

Currently, based on the annual cost of medication (including free drugs), the 10 most expensive rare diseases are:

Gaucher disease-imiglucerase

Pompe disease-alglucosidase alfa

Mucopolysaccharidosis type IVA - elosulfatase alfa

Mucopolysaccharidosis type II - idoxurase beta

Mucopolysaccharidosis type I - laronidase

X-linked hypophosphatemia - brosuzumab

Hereditary angioedema - lanariumab

Fabry disease - agalsidase beta

Fabry disease - agalsidase alfa

Spinal muscular atrophy - Lisaprol

Spinal Muscular Atrophy - Nusinersen

Hemophilia A - Emicizumab

Gaucher disease

Gaucher disease, also known as glucocerebrosidosis, is a sugar and lipid metabolism disease that is inherited as an autosomal recessive trait and is the most common type of lysosomal deposition disease. Glucocerebroside is a soluble glycolipid substance that is one of the components of cells and is widely present in the human body. Due to the lack of glucocerebrosidase, glucocerebroside accumulates in the mononuclear-macrophage cells of the liver, spleen, bones, and central nervous system, resulting in the onset of the disease and corresponding clinical manifestations.

Mucopolysaccharidosis

Mucopolysaccharidosis is a rare disease with an incidence rate of only one in 25,000. The patient lacks mucopolysaccharide degrading enzymes, which prevents the decomposition of mucopolysaccharides and causes them to accumulate in the body, causing various hazards. This disease is divided into multiple subtypes, and the clinical characteristics are growth retardation, abnormal gait and bone deformities, which will eventually threaten life.

X-linked hypophosphatemia

X-linked hypophosphatemia is a severe rare genetic disease in which most children experience bowed legs, short stature, bone pain and severe toothache. Some patients also experience persistent discomfort or complications such as joint pain, impaired mobility, tooth abscesses and hearing loss.

Fabry disease

Fabry disease is a very rare X-linked inherited glycosphingolipid metabolic disease. The pathogenesis is due to the congenital deficiency of α-galactosidase A (α-GalA) in the patient's body, which prevents the cleavage of the metabolites ceramide (Gb3) and ceramide dihexosyl. They accumulate extensively in the patient's blood vessels and organs, causing severe pain in the limbs and causing serious damage to the kidneys, heart, brain, nerves and other organs. The disease is progressive and worsening, and will be life-threatening if not effectively treated.

Spinal muscular atrophy

Spinal muscular atrophy (SMA) is a disease caused by the degeneration of the motor neurons in the anterior horns of the spinal cord, which leads to muscle weakness and atrophy. It is an autosomal recessive genetic disease and is not uncommon in clinical practice. The clinical manifestations of this disease vary greatly. According to the patient's age of onset and clinical course, SMA is divided into 4 types from severe to mild. The common feature is the degeneration of the anterior horn cells of the spinal cord. The clinical manifestations are progressive, symmetrical, and widespread flaccid paralysis and muscular atrophy mainly in the proximal limbs, with normal intellectual development and sensation.

Hereditary angioedema

Hereditary angioedema is a rare genetic disease characterized by paroxysmal, self-limited, localized systemic submucosal non-pitting edema. When edema occurs in the airway, it can cause laryngeal edema, which can lead to death from suffocation if not promptly treated; when edema occurs in the gastrointestinal tract, it can mimic acute abdomen and is often misdiagnosed as appendicitis, acute pancreatitis, etc., leading to emergency laparotomy.

hemophilia

Hemophilia is a group of bleeding diseases with inherited coagulation dysfunction, whose common characteristics are impaired active thromboplastin production, prolonged coagulation time, and a lifelong tendency to bleed after mild trauma. Severe patients may also experience "spontaneous" bleeding without obvious trauma.

Orange Persimmon Interactive Reporter Yu Qianqian Zhang Jing Jin Jing

Correspondent Fang Xu, Wang Xuefei, Lu Qing