This is an article written by Li Yaoshi for the China Association for Science and Technology to dispel rumors, which was shared today for your reference and discussion.
The total number of rare diseases in China is close to 20 million, and there are hundreds of millions of rare disease patients in the world.
Targeted drugs that can manipulate specific DNA sequences offer promise for the treatment of rare diseases.
Behind the 700,000 injections of special drugs into medical insurance is the country's emphasis on rare disease patients.
It is believed that more rare disease drugs will enter medical insurance in the future.
For a terminally ill person, more desperate than no cure, is that suddenly there is medicine but you can't afford it. And this is the dilemma that families of SMA patients have faced in the past 5 years. SMA, short for spinal muscular atrophy, is a disease caused by genetic defects that afflicts tens of thousands of families in China.
But recently things have turned around: the special drug for the treatment of SMA, Nosinasin sodium injection, has entered medical insurance, from 700,000 to more than 30,000 yuan, which has made many parents cry with joy.
In fact, the high price of rare disease drugs is not an isolated case, and the reason lies in the "rarity" of rare diseases and the difficulty of treatment. Let's take SMA as an example and briefly introduce it.
01 Patients with rare diseases may not be rare
As the name suggests, "rare diseases" are certainly rare, and previously the academic community believed that rare diseases were the kind of diseases with a "prevalence of less than one in 500,000 adults and less than 1 in 10,000 in newborns", and the newer definition was "a disease with a neonatal incidence of less than 1 in 10,000, a prevalence of less than 1 in 10,000, and a disease of less than 140,000 people classified as rare diseases", and only a very small number of these rare diseases have more effective treatment methods.
Although there are not many patients with each rare disease, there are many types of rare diseases, so that the number of patients with rare diseases is not a small number, and the total number of rare disease patients in China is close to 20 million, and the number of rare disease patients in the world is hundreds of millions.
Many rare diseases have very serious consequences, often affecting multiple systems and internal organs of the human body at the same time, and often develop gradually, cannibalizing the health of patients little by little until their lives are exhausted.
For example, SMA in the previous article, is a rare hereditary neuromuscular disease, this disease is characterized by the loss of motor neurons in the spinal cord and lower brainstem, the consequence of which is to develop into a serious, progressive muscle atrophy and weakness, and eventually the patient will lose the ability to move, and even difficult to complete the basic life functions such as breathing and swallowing.
This disease is actually a genetic disease caused by the recessive inheritance of genes, this kind of genetic defects are usually inherited from the family, taking SMA as an example, those who look normal, but at the same time carry SMA gene defects parents (gene carrying rate of about 2%), there is a certain chance (25%) to have a child with SMA, most of the disease will be onset before the age of 3, bringing great impact to patients and families.
So, what should we do in the face of such a disease?
02 Precision-targeted drugs: a new direction for future medical treatment
With the continuous development and progress of science, many diseases that were originally difficult to treat, and even some rare diseases caused by genetic defects, have gradually emerged with new treatment methods and drug types.
It has to be said that advances in molecular biology and the understanding of the human genome have greatly expanded our toolbox for developing new drugs, and in recent years, related research in antisense oligonucleotides, small interfering RNA (siRNAs), and gene editing therapies has made our treatment of diseases more targeted, and even able to perform a series of operations on specific DNA sequences, such drugs can be classified as targeted drugs.
Or take SMA as an example, the mechanism of this disease onset, summed up is due to related genetic defects, resulting in insufficient production of motor neuron proteins in the human body, resulting in neuronal degeneration.
Northinalsan sodium injection can achieve the effect of promoting neuronal protein synthesis through splicing of related genes, although it cannot completely cure SMA, but it can greatly improve the problem of SMA motor neuron protein synthesis disorders, thereby improving or maintaining the patient's motor function. This drug can be said to be a kind of "targeted therapy".
03 Sky-high price of special drugs, finally affordable!
Although the good news is that "there is a medicine that can cure the disease", it is followed by bad news - this medicine we may not be able to afford...
As mentioned earlier, the biggest common denominator of rare diseases is "rare", and for pharmaceutical companies, new drugs for rare diseases are often difficult to develop, long cycles, and huge costs, while the market size is small, in order to recover costs, pharmaceutical companies' pricing of such drugs is often very high.
Or take the specific drug for the treatment of SMA, Northinasin sodium injection as an example, this drug was listed abroad in 2016, the drug has been approved in more than 50 countries and regions around the world, as of March 31, 2020, more than 10,000 patients worldwide have received sodium treatment for Northinasine.
This drug, in 2019, passed the priority review procedure of the State Food and Drug Administration and was approved to enter the country, which solved the problem that SMA patients in China had no drugs available. At the beginning of the domestic approval for marketing, the price of the drug was 700,000 yuan a needle, and then it was reduced to 550,000 yuan a needle.
It should be noted that although Northinal sodium injection is a special drug, it is not a needle that can be used to eliminate the disease, but to be administered through intrathecal injection, after completing 4 injections in the first 2 months, the follow-up still needs to be injected every 4 months to maintain the dose, so calculated down, whether it is a shot of 700,000 or 550,000, for many patient families, it is a sky-high drug that can only be sighed.
In this medical insurance negotiation, the representative of the medical insurance bureau negotiation experts repeatedly stressed: "I hope that the enterprise will come up with a more sincere offer, and every small group should not be abandoned", after an hour and a half of arduous negotiations, the transaction price of the final medical insurance was further reduced by more than 20,000 yuan compared with the initial negotiated quotation of the pharmaceutical company, and the price per needle was reduced to 33,000 yuan.
This price is the price obtained by negotiators after many "soul bargains", which is an extra "raw" hope for SMA patients! The cost of maintenance treatment for 3 injections per year has dropped from the original millions to about 100,000 yuan, and with a certain proportion of medical insurance reimbursement, the economic burden of medication for patients is really greatly reduced.
With the continuous progress of science and technology, I believe that there will be more and more diseases can be better treated, rare disease patients will also get more effective drugs and treatment methods, for the problem of high prices of new drugs, but also need to be further implemented and supported by relevant national policies, the implementation of the medical reform system in recent years, whether it is the annual medical insurance negotiations, or with the implementation of the drug consistency evaluation centralized procurement system, has greatly improved the drug economy of many drugs, Increased accessibility of different medications for patients with related diseases.
I have to say that living in this era, this great country we are happy, in terms of health, I believe that under the long-term support and continuous care of national policies, it will bring us a healthy future with less pain!