Medical network on April 21 - rare diseases drugs known as orphan drug, market demand, research and development costs is high, the lack of policy support, no medicine can cure most patients or medicine to buy. People's vision 

No cure but woe 

Due to the small profits and many rare diseases drugs production or shut down, the serious influence the clinical use, let the doctor to do 

18-year-old liu smile high quality lives in shanxi area, is a mucopolysaccharide deposition disease Ⅰ storage type patients. This rare disease make his short stature, looks rough, poor vision. 

Liu laughed at the age of 3, finger joints become stiff, symptoms gradually revealed. With his parents on the long road to seek treatment. More than a year, liu smile each big hospital, and finally in Peking union medical college hospital diagnosed with glycosaminoglycan deposition disease Ⅰ storage type. The doctor says, "no medicine can cure the disease. The child life is short, give him to eat good drink good!" Liu laugh parents didn't give up, always looking forward to a new drug. 

Ten years ago, liu laugh parents find disease materials found on the Internet, the United States has developed a treatable glycosaminoglycan deposition disease Ⅰ storage type of drugs. "Know a cure for this disease, my parents and I was ecstatic." Liu recalled. But, haven't see this medicine list at home, their heart is cool again. At present, the domestic glycosaminoglycan storage product has still not treated Ⅰ effective drugs. 

Drug is also called the orphan drug for the treatment of rare diseases. "There are more than 7000 varieties of rare diseases, there is no medicine can cure most." Hong-bing zhang, a professor in the school of Peking union medical college foundation analysis, rare disease incidence is low, a wide range of pathological complex, are a limited medical knowledge of rare diseases. At present, the rare diseases and drug research and development foundation is weak, new drug research and development lags behind that of developed countries, a lot of drugs mainly depends on import, "once foreign drug companies due to reasons such as profit fell out of the market in China, the patients with drug use will be severely affected." 

Drugs out of stock, also is the rare patients face a big trouble. Bromine overlooks the Ming is life-saving medicine myasthenia gravis patients, relatively cheap, and a box of about 60 pieces of 30 yuan, only one domestic enterprises production. In September 2016, the company found a few batches of the drug was flawed, the implementation of the lowest level of a drug "triple recalled," a dramatic loss of market supply, drug prices have increased 7 times, once panic caused by no cure patients. Fortunately, the enterprise for more than a month later returned to normal production. 

In March 2016, the only effective therapy for multiple sclerosis "led" out of stock, thousands of patients once broken. After that, the German bayer commitment will ensure that aid has not yet been the end of the patient to continue to be "led", until the end of the assistance treatment. Once aid course, domestic thousands of patients with multiple sclerosis may face off again. 

"To the lower gonadotropin sex gonad hypofunction disease as an example, the more effective drug treatment for male patients is gonadotrophin and urine gonadotrophin, these two kinds of medicine is cheaper, but use with didn't." Peking union medical college hospital endocrinology chief physician xue-yan wu told reporters that the older drugs production is the cause of drug patent period, the price is too cheap, manufacturers profit dropped sharply, lost in the production of power. Drug production or shut down will seriously affect the clinical use, make the doctor what to do. 

Price expensive heavy burden 

China's health care is to submit an expense account according to the disease name, for a rare disease of medical insurance is not perfect, many rare diseases medication not included in health care 

"The medicine cost $200000 a year, and need lifelong medication." Liu smile to say, parents to friends from abroad with treatment of glycosaminoglycan deposition disease Ⅰ storage type of new drugs, but because of the expensive, gave up the idea. Liu smile of the parents are ordinary workers, family is not rich, over the years for liu smile has already spent a lot of money, can't afford so high expenses for medicine. 

Many of the rare disease drug price is expensive, especially new drugs is surprisingly expensive. In the United States, is a rare disease treatment to an average of $137000 a year, a large percentage of them for medicine. In recent years, the treatment of foreign public protein C deficiency syndrome, low phosphatases and glycosaminoglycan deposition disease Ⅳ storage diseases such as type specific, at more than $70000 monthly expenses for medicine. 

Rare diseases drugs why so expensive? Hong-bing zhang thinks, mainly research and development cost is very high. Treatment of the rare diseases from research and development of new drugs to average time consuming more than ten years, cost 3 billion yuan. Different from common diseases of new drugs, rare disease and drug use small groups, drug companies can't diluted costs through massive sales, in order to maintain a certain profit, can only be fixed high drug prices. 

Fujian longyan city wu county, Lin gave birth to her daughter small moon last march. Small moon won't cry at birth, reaction ability is poor, low muscle tone. The doctor was doubtful whether small moon gets sick, then put her in the incubator, watch for a month. The doctor did all you can do check, didn't find the cause. 

Ms. Lin a deathless heart, with a small moon from south to north transfer check for many times, cost nearly 100000 yuan. "Children diagnosed with only eight months old little willy syndrome, hip dysplasia, now have to wear a body, every day can only lie on your back, one year old can't sit down." Ms. Lin said, little willy syndrome is a kind of very low incidence of rare diseases, currently only Beijing, Shanghai and other big hospital endocrinology doctors know about this disease. 

"Now children every day to play the growth hormone can improve symptoms, at least to an adult, and cost for ten thousand yuan a year." Ms. Lin said, she had to the local civil affairs bureau to apply for the temporary relief and medical treatment, have been rejected, reason is little willy syndrome is not rescue diseases list. Ms. Lin told reporters that temporary assistance can only apply for once, most 23000 yuan, relative to the huge expenses for medicine is a drop in the ocean. Treating children home because, early to make ends meet, especially hope that relevant departments to growth hormone into the health of a serious illness. 

"A lot of rare diseases medication not included in health care." The people's liberation army general hospital medical director of the center for children li-ping zou argues that China's health care is to submit an expense account according to the disease name, for a rare disease of medical insurance is also imperfect. "And high blood pressure, diabetes and other different, there are a lot of rare disease incidence rate is very low, the name of the eccentric, have not heard, treatment is also found in recent years." Li-ping zou said that relevant departments may not realize these rare diseases included in health care. 

Nankai university ju Ming, director of the center for health economic and health care, as for rare diseases more and more attention, the relevant departments of expanded health care medicine directory, gradually into the drugs for a rare disease, but not as the basic medicine. 

Policy support to speed up 

Countries should set up the orphan drug research funds, special investment for orphan drug motivate scientists and drug companies for orphan drug to strengthen research and development 

Europe, America, Japan and other developed countries for orphan drug research and development started early, through increased investment in science and technology, such as giving preferential policy measures, has made certain achievements, have developed more than 600 kinds of drugs. At present, our country orphan drug research and development in the initial stage, less than 10 engaged in research and development of enterprises. 

Orphan drug research and development of high difficulty, the success rate is low. According to statistics, development and launch an orphan drug in Europe the success rate of less than one over four thousand, only one over six thousand in the United States. Experts believe that each a rare group of patients with low proportion, market capacity is small, low returns on business investment, the domestic research institutes and pharmaceutical enterprises are not willing to invest. At the same time, drug supply security system in our country is to design based on the system of common disease, frequently-occurring disease, there is no specific rare diseases medicine research and development, pricing and reimbursement incentive policy. Countries should set up the orphan drug research funds, special investment for orphan drug stimulating scientists study of orphan drug and drug companies. 

"In a foreign country, a lot of folk charity foundation, established the rare disease for orphan drug research funding." Li-ping zou recommendations, the government should guide the enterprises and charity foundation, set up some rare disease in giving patients at the same time, also to be engaged in research and development of orphan drug scientists and institutions to provide funding and reward. 

For some rare diseases, the older drugs do not necessarily inferior to new drugs. Hong-bing zhang thinks, when older drugs lost or will lose patent protection, some pharmaceutical companies sometimes slightly change old medicine formula, renamed drugs, when the development of new drugs. Actually, these "false drugs" curative effect is not better than the older drugs, but the price you several times, increase the economic burden of the patients and society. Therefore, it is necessary to protect older drugs production. He suggested that can draw lessons from the experience of developed countries, tax breaks and subsidies, let the drug companies money to be made, not cut production. 

"Generic drug prices are a fraction of a patent medicine price, curative effect is essentially the same." Hong-bing zhang believes that domestic enterprises in the production of generic drugs, should have quality in the first place, guarantee the curative effect. Indian generics industry is very developed, for example, produces 20% of the world's generic drugs, a large part of exports to developed countries such as America and Europe day. The secret of India is copy don't go out of form, to ensure high quality. Dealing with the production of generic drugs in our country enterprise offer certain taxes, examination and approval and other preferential policies. 

"Some instruction on rare diseases can be treated did not show, but the doctors found in clinical studies, these drugs for the treatment of rare diseases have a very good effect." Li-ping zou proposal, for this class of drugs, countries should set up a special channel for examination and approval, timely increase these drugs indications for the treatment of rare diseases. 

There are more than 7000 known rare disease. To this end, the developed countries introduced a lot of measures to encourage scientific research institutions and enterprises to speed up the development of orphan drug. 

1. The market monopoly 

The guarantee enterprise approval after 7 years of market monopoly, and is not influenced by the patent. The eu guarantee approval after 10 years of market monopoly, orphan drug in pediatric medicine research program, its duration could be extended by two years. 

2. Tax breaks and grants 

American orphan drug in clinical research and development period can enjoy preferential, 50% of the tax credits and can stretch forward 3 years, goes back 15 years, the total tax credits can be up to 70% of the cost of clinical studies. Eu credits listed companies apply for orphan drug registration fees, various research projects and association for orphan drug research and development to provide huge amounts of money. 

3. The focus on rapid examination and approval 

Released in 2014, the United States, the serious situation drugs to speed up the program guidelines apply to the orphan drug, including identifying, breakthrough therapy, fast-track approval and other measures. Focus on the approval process is an orphan drug on the market in the European Union is the most effective and rapid way. After approval, orphan drug can be in any eu member states free circulation on the market and sales.