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Interview with Professor Dong Qiang: The characteristics and challenges of rare diseases of the nervous system There are many types of rare diseases of the nervous system with complex phenotypes, and most of them cannot be cured
.
In recent years, with the continuous development of a number of molecular biology technologies at home and abroad, and relying on a number of national policies to speed up the review and approval of drugs for rare diseases, many new drugs for rare diseases are rapidly entering China
.
Among them, the rare neurological disease represented by spinal muscular atrophy (SMA) has made breakthrough progress in the past 30 years, allowing more SMA patients to get a new life
.
However, the diagnosis and treatment of rare diseases of the domestic nervous system still faces many difficulties and challenges
.
During the 24th National Conference on Neurology (NCN 2021) held on September 23~26, Yimaitong was fortunate to interview Professor Dong Qiang from Huashan Hospital affiliated to Fudan University, and related knowledge about rare diseases of the nervous system.
Point has been answered, and the content is organized as follows
.
(Note: The following text is the essence of the interview with Professor Dong Qiang.
If you want to know more and more exciting content, you can click on the video above to watch ↑↑↑) Yimaitong: You have very rich clinical experience in the field of neurological diseases.
What is the difference between the current diagnosis and treatment of common and rare diseases of the nervous system in China? Professor Dong Qiang The difference between common and rare diseases of nervous system diseases is mainly reflected in the three aspects of morbidity, diagnosis and treatment capabilities: ➤Common diseases occur frequently.
For the current spectrum of common diseases, the main diseases are stroke and Alzheimer's.
; For rare diseases, the incidence is relatively low but there are many types, mainly in the areas of neurogenetic diseases, neuromuscular diseases and peripheral neuropathies
.
➤The coverage of common diseases is wide, and the diagnosis and treatment are relatively standardized; however, rare diseases are very heterogeneous and difficult to diagnose, and treatment is more only to change the patient's clinical symptoms or survival status, and cannot fundamentally change the final prognosis
.
However, in the past 20 years, with the continuous updating of clinical guidelines for most diseases in China, for neurologists, the quality of medical services is gradually improving, and the standards of diagnosis and treatment are becoming stricter
.
➤For rare diseases, only a few large medical centers have the ability to identify abnormalities in the genetic background of the disease
.
Although the incidence of rare diseases is low, if they are concentrated in large medical centers, rare diseases will become a common disease.
Therefore, common diseases and rare diseases are two different concepts that complement each other
.
Yimaitong: The current early diagnosis of rare diseases of the nervous system is still unsatisfactory, such as spinal muscular atrophy (SMA).
What do you think is the reason for this phenomenon? Professor Dong Qiang's diagnosis of SMA involves multiple disciplines, not only neurology, but also pediatrics, respiratory medicine, spine surgery, etc.
, especially pediatric neurology
.
The Department of Pediatric Neurology mainly focuses on genetic diseases, metabolic diseases and congenital developmental diseases
.
SMA, as one of them, is still only diagnosed in a few hospitals in China
.
When the patient is close to adolescents to the adult neurology department, the average neurologist has a lower rate of adaptation to the patient's disease
.
Therefore, even if we already have very good treatments, such as Nosina, although there are currently nearly 300 patients receiving the drug in China, whether such patients can receive the best treatment is still a very important issue in China.
Big difficulty
.
Especially when primary hospitals cannot identify SMA, large medical centers may not be able to gather relatively specific SMA patients, so this is also a problem
.
Although large medical centers have concentrated many patients, it is likely that these patients are not identified in the wider primary hospitals
.
Yimaitong: In addition to diagnosis, what are the dilemmas in the treatment of rare diseases of the nervous system.
How do you think we should deal with these challenges? Professor Dong Qiang, from the broad sense of rare diseases of the nervous system, most have the background of abnormal genetic mechanisms.
But the ways of different hereditary rare diseases are different
.
Some rare diseases are caused by the mutation of multiple genes; some are only caused by the duplication of amino acid sequence, so the detection of the genetic background of different CE technologies is a difficult point in current clinical practice
.
It is necessary to choose different genetic testing methods to truly discover abnormal genetic genes
.
At present, there are many genetic testing technology companies in China, but clinicians have not selected the corresponding accurate screening methods according to different characteristics
.
On the contrary, the testing company is not very clear about what should be tested for each sample.
Therefore, this contradiction actually comes from the huge gap between the technology development of the testing company and the update of doctors’ knowledge
.
In general, clinicians have to fill the knowledge gap and at the same time the technology gap, so that companies that provide technical testing can also keep up with the clinical science thinking, can improve the accuracy of disease diagnosis, and promote the future.
Develop new treatments
.
Yimaitong: What is the current status of SMA medication and what are the difficulties in SMA medication? How to solve it? Professor Dong Qiang currently has very good treatment drugs for SMA.
According to evidence from international clinical studies, Nosinasan can prolong the lifespan of patients and improve the motor function of patients.
In addition, some patients may not understand SMA and cannot go to formal The hospital conducts medical treatment; or even if the patient goes to the hospital for medical treatment, the doctor’s clinical capabilities, including diagnosis, testing, and inspection capabilities, cannot keep up with the pace of new drugs and treatments
.
Therefore, it is necessary to improve the medical diagnosis and treatment capabilities of doctors.
This requires large medical centers to form a diagnosis and treatment alliance in adjacent areas or the same professional interests
.
Let all the doctors in the diagnosis and treatment alliance update their knowledge to the same level
.
In short, academic promotion is needed to allow more doctors to recognize SMA from different levels
.
A large national-level medical center can pass some standards and regulations to bring such patients to the higher-level medical center, so as to achieve true accurate diagnosis and give patients effective treatment
.
Interview with Professor Wu Shiwen: Current status and challenges of diagnosis and treatment of adult spinal muscular atrophy.
Although most patients with SMA develop onset in infants and young children and are mostly diagnosed in pediatric neurology, they will be diagnosed and treated in neurology as adults.
As of August 2021, China More than 300 SMA patients have received DMT drug treatment, of which adult patients are very limited.
Therefore, the current status and treatment of adult SMA deserve more attention
.
During the 24th National Conference on Neurology (NCN 2021) held on September 23~26, Yimaitong was fortunate to interview Professor Wu Shiwen from the Department of Neurology, General Hospital of the People’s Liberation Army, on the relevant knowledge of adult SMA Point has been answered, and the content is organized as follows
.
(Note: The following text is the essence of the interview with Professor Wu Shiwen.
If you want to know more and more exciting content, you can click on the video above to watch ↑↑↑) Yimaitong: The current adult-type spinal muscular atrophy (SMA) in China What is the status of diagnosis and treatment? Compared with pediatric spinal muscular atrophy (SMA), Professor Wu Shiwen has two characteristics in the current status of adult SMA in China: (1) poorer quality of life and mental health; (2) low social attention
.
➤According to the research of natural medical history, the progressive loss of motor neurons in SMA patients from children to adults leads to a decline in muscle strength, failure to achieve motor milestones or loss of motor function acquired.
As the course of the disease extends, patients will develop muscles.
Atrophy, joint contractures and even deformities are often associated with other system-related problems such as scoliosis, breathing, and digestion
.
This severely affects the patients' inability to carry out daily activities, physical exercises, inability to take care of themselves, and social activities, and further seriously affects the quality of life and mental health of adult patients.
At the same time, the patients' families also bear a huge life and spiritual burden
.
➤Currently, the domestic society pays less attention to patients with adult SMA.
In China, in 2019, SMA's first disease-modifying treatment (DMT) drug, Nosinasan, was approved for marketing.
At present, more than 300 patients have been treated with this drug, including adults There are about 10 patients
.
On the other hand, there are more than 11,000 patients who have been treated with Nosinathan in the world, and 33% of them are adult patients.
In contrast, the proportion of Chinese adult patients receiving treatment is very low
.
These data indicate that most adult SMA patients in China have not received the latest and best treatment.
Therefore, adult SMA patients not only need the attention of the whole society, but also need medical staff to follow up with the latest information on disease diagnosis and treatment, so that patients can receive updates.
, Better treatment
.
Yimaitong: What is the significance of disease modification therapy (DMT) for adult patients with SMA? Professor Wu Shiwen is slightly different between adult SMA and child or infant SMA
.
The incidence of multi-tissue or multi-organ complications in adult SMA patients increases .
Compared with children, they have a longer course of disease, usually with bone and joint deformities, especially scoliosis, and chronic pain
.
Secondly, their complications and drug use rate will be higher
.
In addition, due to the pressure of life, adult SMA is also accompanied by some anxiety, and then unable to carry out daily activities, physical exercises, social activities, etc.
, which seriously affects the quality of life and mental health of adult patients
.
At present, a consensus has been formed for the DMT drug treatment of adult SMA
.
SMA is a progressive disease.
In the absence of DMT intervention, patients will gradually lose motor neurons.
Regardless of the type, the muscle strength and motor function of SMA patients will progressively decline
.
A large number of foreign evidence suggests that patients with type 1c-3b have a linear decline throughout their life cycle, accompanied by changes in neuroelectrophysiology and muscle influence
.
If the patient is not treated, most of its motor function (HFMSE), lung function, 6-minute walk test (6MWT) and other functions will show a slow decline throughout the life cycle
.
A large amount of real-world research evidence shows that Nosinathan is an effective treatment for DMT
.
After the patient receives the drug treatment, it can be clearly seen that both the 6MWT distance and the HFMSE score can reverse or even improve these symptoms/functions
.
At the same time, some prospective or cohort studies also suggest that the benefit of patients receiving noxinazan treatment is not related to age
.
Although the treatment of SMA should emphasize early diagnosis and treatment, most patients can be stabilized or reversed disease progression if they receive treatment in the later stage of SMA
.
Yimaitong: As an expert in the field, what prospects for the diagnosis and treatment of adult SMA patients are worth looking forward to? Professor Wu Shiwen I think the treatment of SMA is hopeful, because everyone previously thought it was a genetic disease without medication.
However, With the recent emergence of innovative drugs, especially the relatively widespread use of Nosinasan, we have seen new breakthroughs and dawn, and we are more confident in the future treatment of SMA
.
At the same time, for the treatment of SMA in the future, we should pay attention to the following points: ➤The treatment of SMA first requires early diagnosis and early treatment.
The current long-term real-world research has also given us a clear answer-early diagnosis and early treatment can effectively delay SMA As the disease progresses, the sooner the diagnosis is made, the sooner DMT drug treatment is initiated and persisted for a long time, the less damage the disease will cause, the better the prognosis, and the better the quality of life of the patient
.
➤Because SMA involves multiple system damages and complications, multidisciplinary comprehensive management is very important for SMA patients
.
In conditional hospitals, or when the patient’s own economic conditions permit, receive multidisciplinary comprehensive diagnosis and treatment as soon as possible, and provide overall care and care to patients from multiple angles.
The prognosis may be better and their health may be improved.
Quality of life, maintain mental health
.
➤With the continuous advancement of medical technology, the emergence of Nosinathan has improved the prognosis of patients; at the same time, with the continuous emergence of new, multi-targeted drugs, the future trend of SMA treatment is likely to be more Target, comprehensive treatment
.
We look forward to the emergence of some better, combined treatment methods for SMA in the future, so that patients can obtain better functional prognosis
.
➤Finally, we also expect that adult SMA patients will receive more attention from the whole society and increase the social awareness of the disease.
It is very important to let patients understand that this is a disease that can be cured
.
Secondly, there is the issue of treatment costs.
Many gene therapy drugs are relatively expensive.
These drugs require the government, social organizations, and patient organizations to contribute their efforts so that each of them can receive the best treatment
.
Finally, SMA patients are involved in multiple system damages and complications in the later stage.
Their life care is also a major issue, and they need to be paid attention to by the whole society.
The quality of life is greatly improved
.
In short, with the development of our country’s economy and technological progress, and relying on a number of national policies to accelerate the review and approval of rare disease drugs, more and more people in China are also concerned about this rare disease, and the comprehensive treatment of SMA is also With continuous improvement, the overall prognosis and quality of life of SMA patients in the future will definitely be greatly improved.
We look forward to this day and come soon!
.
In recent years, with the continuous development of a number of molecular biology technologies at home and abroad, and relying on a number of national policies to speed up the review and approval of drugs for rare diseases, many new drugs for rare diseases are rapidly entering China
.
Among them, the rare neurological disease represented by spinal muscular atrophy (SMA) has made breakthrough progress in the past 30 years, allowing more SMA patients to get a new life
.
However, the diagnosis and treatment of rare diseases of the domestic nervous system still faces many difficulties and challenges
.
During the 24th National Conference on Neurology (NCN 2021) held on September 23~26, Yimaitong was fortunate to interview Professor Dong Qiang from Huashan Hospital affiliated to Fudan University, and related knowledge about rare diseases of the nervous system.
Point has been answered, and the content is organized as follows
.
(Note: The following text is the essence of the interview with Professor Dong Qiang.
If you want to know more and more exciting content, you can click on the video above to watch ↑↑↑) Yimaitong: You have very rich clinical experience in the field of neurological diseases.
What is the difference between the current diagnosis and treatment of common and rare diseases of the nervous system in China? Professor Dong Qiang The difference between common and rare diseases of nervous system diseases is mainly reflected in the three aspects of morbidity, diagnosis and treatment capabilities: ➤Common diseases occur frequently.
For the current spectrum of common diseases, the main diseases are stroke and Alzheimer's.
; For rare diseases, the incidence is relatively low but there are many types, mainly in the areas of neurogenetic diseases, neuromuscular diseases and peripheral neuropathies
.
➤The coverage of common diseases is wide, and the diagnosis and treatment are relatively standardized; however, rare diseases are very heterogeneous and difficult to diagnose, and treatment is more only to change the patient's clinical symptoms or survival status, and cannot fundamentally change the final prognosis
.
However, in the past 20 years, with the continuous updating of clinical guidelines for most diseases in China, for neurologists, the quality of medical services is gradually improving, and the standards of diagnosis and treatment are becoming stricter
.
➤For rare diseases, only a few large medical centers have the ability to identify abnormalities in the genetic background of the disease
.
Although the incidence of rare diseases is low, if they are concentrated in large medical centers, rare diseases will become a common disease.
Therefore, common diseases and rare diseases are two different concepts that complement each other
.
Yimaitong: The current early diagnosis of rare diseases of the nervous system is still unsatisfactory, such as spinal muscular atrophy (SMA).
What do you think is the reason for this phenomenon? Professor Dong Qiang's diagnosis of SMA involves multiple disciplines, not only neurology, but also pediatrics, respiratory medicine, spine surgery, etc.
, especially pediatric neurology
.
The Department of Pediatric Neurology mainly focuses on genetic diseases, metabolic diseases and congenital developmental diseases
.
SMA, as one of them, is still only diagnosed in a few hospitals in China
.
When the patient is close to adolescents to the adult neurology department, the average neurologist has a lower rate of adaptation to the patient's disease
.
Therefore, even if we already have very good treatments, such as Nosina, although there are currently nearly 300 patients receiving the drug in China, whether such patients can receive the best treatment is still a very important issue in China.
Big difficulty
.
Especially when primary hospitals cannot identify SMA, large medical centers may not be able to gather relatively specific SMA patients, so this is also a problem
.
Although large medical centers have concentrated many patients, it is likely that these patients are not identified in the wider primary hospitals
.
Yimaitong: In addition to diagnosis, what are the dilemmas in the treatment of rare diseases of the nervous system.
How do you think we should deal with these challenges? Professor Dong Qiang, from the broad sense of rare diseases of the nervous system, most have the background of abnormal genetic mechanisms.
But the ways of different hereditary rare diseases are different
.
Some rare diseases are caused by the mutation of multiple genes; some are only caused by the duplication of amino acid sequence, so the detection of the genetic background of different CE technologies is a difficult point in current clinical practice
.
It is necessary to choose different genetic testing methods to truly discover abnormal genetic genes
.
At present, there are many genetic testing technology companies in China, but clinicians have not selected the corresponding accurate screening methods according to different characteristics
.
On the contrary, the testing company is not very clear about what should be tested for each sample.
Therefore, this contradiction actually comes from the huge gap between the technology development of the testing company and the update of doctors’ knowledge
.
In general, clinicians have to fill the knowledge gap and at the same time the technology gap, so that companies that provide technical testing can also keep up with the clinical science thinking, can improve the accuracy of disease diagnosis, and promote the future.
Develop new treatments
.
Yimaitong: What is the current status of SMA medication and what are the difficulties in SMA medication? How to solve it? Professor Dong Qiang currently has very good treatment drugs for SMA.
According to evidence from international clinical studies, Nosinasan can prolong the lifespan of patients and improve the motor function of patients.
In addition, some patients may not understand SMA and cannot go to formal The hospital conducts medical treatment; or even if the patient goes to the hospital for medical treatment, the doctor’s clinical capabilities, including diagnosis, testing, and inspection capabilities, cannot keep up with the pace of new drugs and treatments
.
Therefore, it is necessary to improve the medical diagnosis and treatment capabilities of doctors.
This requires large medical centers to form a diagnosis and treatment alliance in adjacent areas or the same professional interests
.
Let all the doctors in the diagnosis and treatment alliance update their knowledge to the same level
.
In short, academic promotion is needed to allow more doctors to recognize SMA from different levels
.
A large national-level medical center can pass some standards and regulations to bring such patients to the higher-level medical center, so as to achieve true accurate diagnosis and give patients effective treatment
.
Interview with Professor Wu Shiwen: Current status and challenges of diagnosis and treatment of adult spinal muscular atrophy.
Although most patients with SMA develop onset in infants and young children and are mostly diagnosed in pediatric neurology, they will be diagnosed and treated in neurology as adults.
As of August 2021, China More than 300 SMA patients have received DMT drug treatment, of which adult patients are very limited.
Therefore, the current status and treatment of adult SMA deserve more attention
.
During the 24th National Conference on Neurology (NCN 2021) held on September 23~26, Yimaitong was fortunate to interview Professor Wu Shiwen from the Department of Neurology, General Hospital of the People’s Liberation Army, on the relevant knowledge of adult SMA Point has been answered, and the content is organized as follows
.
(Note: The following text is the essence of the interview with Professor Wu Shiwen.
If you want to know more and more exciting content, you can click on the video above to watch ↑↑↑) Yimaitong: The current adult-type spinal muscular atrophy (SMA) in China What is the status of diagnosis and treatment? Compared with pediatric spinal muscular atrophy (SMA), Professor Wu Shiwen has two characteristics in the current status of adult SMA in China: (1) poorer quality of life and mental health; (2) low social attention
.
➤According to the research of natural medical history, the progressive loss of motor neurons in SMA patients from children to adults leads to a decline in muscle strength, failure to achieve motor milestones or loss of motor function acquired.
As the course of the disease extends, patients will develop muscles.
Atrophy, joint contractures and even deformities are often associated with other system-related problems such as scoliosis, breathing, and digestion
.
This severely affects the patients' inability to carry out daily activities, physical exercises, inability to take care of themselves, and social activities, and further seriously affects the quality of life and mental health of adult patients.
At the same time, the patients' families also bear a huge life and spiritual burden
.
➤Currently, the domestic society pays less attention to patients with adult SMA.
In China, in 2019, SMA's first disease-modifying treatment (DMT) drug, Nosinasan, was approved for marketing.
At present, more than 300 patients have been treated with this drug, including adults There are about 10 patients
.
On the other hand, there are more than 11,000 patients who have been treated with Nosinathan in the world, and 33% of them are adult patients.
In contrast, the proportion of Chinese adult patients receiving treatment is very low
.
These data indicate that most adult SMA patients in China have not received the latest and best treatment.
Therefore, adult SMA patients not only need the attention of the whole society, but also need medical staff to follow up with the latest information on disease diagnosis and treatment, so that patients can receive updates.
, Better treatment
.
Yimaitong: What is the significance of disease modification therapy (DMT) for adult patients with SMA? Professor Wu Shiwen is slightly different between adult SMA and child or infant SMA
.
The incidence of multi-tissue or multi-organ complications in adult SMA patients increases .
Compared with children, they have a longer course of disease, usually with bone and joint deformities, especially scoliosis, and chronic pain
.
Secondly, their complications and drug use rate will be higher
.
In addition, due to the pressure of life, adult SMA is also accompanied by some anxiety, and then unable to carry out daily activities, physical exercises, social activities, etc.
, which seriously affects the quality of life and mental health of adult patients
.
At present, a consensus has been formed for the DMT drug treatment of adult SMA
.
SMA is a progressive disease.
In the absence of DMT intervention, patients will gradually lose motor neurons.
Regardless of the type, the muscle strength and motor function of SMA patients will progressively decline
.
A large number of foreign evidence suggests that patients with type 1c-3b have a linear decline throughout their life cycle, accompanied by changes in neuroelectrophysiology and muscle influence
.
If the patient is not treated, most of its motor function (HFMSE), lung function, 6-minute walk test (6MWT) and other functions will show a slow decline throughout the life cycle
.
A large amount of real-world research evidence shows that Nosinathan is an effective treatment for DMT
.
After the patient receives the drug treatment, it can be clearly seen that both the 6MWT distance and the HFMSE score can reverse or even improve these symptoms/functions
.
At the same time, some prospective or cohort studies also suggest that the benefit of patients receiving noxinazan treatment is not related to age
.
Although the treatment of SMA should emphasize early diagnosis and treatment, most patients can be stabilized or reversed disease progression if they receive treatment in the later stage of SMA
.
Yimaitong: As an expert in the field, what prospects for the diagnosis and treatment of adult SMA patients are worth looking forward to? Professor Wu Shiwen I think the treatment of SMA is hopeful, because everyone previously thought it was a genetic disease without medication.
However, With the recent emergence of innovative drugs, especially the relatively widespread use of Nosinasan, we have seen new breakthroughs and dawn, and we are more confident in the future treatment of SMA
.
At the same time, for the treatment of SMA in the future, we should pay attention to the following points: ➤The treatment of SMA first requires early diagnosis and early treatment.
The current long-term real-world research has also given us a clear answer-early diagnosis and early treatment can effectively delay SMA As the disease progresses, the sooner the diagnosis is made, the sooner DMT drug treatment is initiated and persisted for a long time, the less damage the disease will cause, the better the prognosis, and the better the quality of life of the patient
.
➤Because SMA involves multiple system damages and complications, multidisciplinary comprehensive management is very important for SMA patients
.
In conditional hospitals, or when the patient’s own economic conditions permit, receive multidisciplinary comprehensive diagnosis and treatment as soon as possible, and provide overall care and care to patients from multiple angles.
The prognosis may be better and their health may be improved.
Quality of life, maintain mental health
.
➤With the continuous advancement of medical technology, the emergence of Nosinathan has improved the prognosis of patients; at the same time, with the continuous emergence of new, multi-targeted drugs, the future trend of SMA treatment is likely to be more Target, comprehensive treatment
.
We look forward to the emergence of some better, combined treatment methods for SMA in the future, so that patients can obtain better functional prognosis
.
➤Finally, we also expect that adult SMA patients will receive more attention from the whole society and increase the social awareness of the disease.
It is very important to let patients understand that this is a disease that can be cured
.
Secondly, there is the issue of treatment costs.
Many gene therapy drugs are relatively expensive.
These drugs require the government, social organizations, and patient organizations to contribute their efforts so that each of them can receive the best treatment
.
Finally, SMA patients are involved in multiple system damages and complications in the later stage.
Their life care is also a major issue, and they need to be paid attention to by the whole society.
The quality of life is greatly improved
.
In short, with the development of our country’s economy and technological progress, and relying on a number of national policies to accelerate the review and approval of rare disease drugs, more and more people in China are also concerned about this rare disease, and the comprehensive treatment of SMA is also With continuous improvement, the overall prognosis and quality of life of SMA patients in the future will definitely be greatly improved.
We look forward to this day and come soon!
