Orphan disease is a term applied to diseases that are rare. Now medicine already knows about seven thousand varieties of pathologies observed in an extremely small percentage of the population. As for orphan diseases in general, every two thousand people on the planet will have at least some type.

General information

An orphan disease is usually related to a particular person's genetics. This is a congenital pathology, detected immediately at birth or at an early age.

According to statistics from the Russian Academy of Medical Sciences, orphan diseases in Russia have been recorded in three hundred thousand people. Treatment of these diseases occurs with financial support from regional authorities.

Everything is official

Is the pathology called an “orphan disease”, or is it just a disease? Finding out is as easy as shelling pears; just check the special list. The list of diseases in this group was approved by a special resolution of the Ministry of Health.

Regulatory documents were adopted in 2014 under number 778. This list became valid in 2015 and is valid to this day. At the same time, a law on the prevention of orphan diseases and their treatment came into force.

Terminology

Rare (orphan) diseases are pathologies that progress over time, affecting the quality of life and putting it at risk. This disease shortens normal life expectancy. In some cases, if orphan diseases have been diagnosed, disability is established immediately.

According to the standards, a disease that occurs no more often than one in two thousand people can be classified as orphan. The government of the country is ready to provide assistance in disease prevention and therapy. People diagnosed with rare diseases can receive the medications they need, free of charge, and without downtime, as well as food if they need to follow a special diet.

Orphan diseases: list

The list is established at the state level and includes diseases that cause shortened life and disability. In cases where there is a recognized cure for a pathology, it is included in the list. Here is the list:

A simplified procedure for providing medications has been developed for all patients, regardless of their membership in a specific group. When developing new medicines, there is a special accelerated algorithm for their registration so that the new product is used as soon as possible to treat those in need.

Specific examples

What exactly is included in the orphan disease category? The list of examples will help answer this question.

The diseases listed below are not a complete list, but they are the ones that are more common than others and have been studied somewhat better:

• hyperinsulinism;
• pseudohypoparathyroidism;
• dyserythropoietic anemia from birth;
• paroxysmal hemoglobinuria, manifested during sleep;
• Louis-Bar syndrome;
• spinal muscle atrophy;
• primary pulmonary hypertension;
• subtypes of lupus erythematosus;
• epidermolysis bullosa;
• marble disease;
• Netherton's syndrome;
• nail, skin candidiasis;
• polycythemia;
• myelodysplasticity.

Rare diseases - rare medicines

Since the treatment of orphan diseases requires special medications, they are also classified as rare. A special regulation has been developed, according to which a particular medicine can be called rare.

Three main criteria:

• the main purpose of the drug is to diagnose, prevent, cure a disease affecting five or fewer people per ten thousand of the population (statistics are analyzed strictly at the time of application);
• The drug is designed for the prevention, control and detection of chronic and debilitating life-threatening pathologies, but its placement on the drug market obviously cannot be a source of profit. In this case, the drug can be called orphan even when the statistics of the diseases against which it is developed exceeds the indicator specified in the previous paragraph;
• Medicine does not know any effective method for identifying, treating and preventing the disease, despite the approvals already issued, but it is assumed that a particular drug may be beneficial to patients and the medical community as a whole.

The benefits are worth it

Since orphan diseases are those that are extremely rare, one might assume that developing a therapy against them is an extremely unprofitable task. But what benefits are available in this area allows us to look at the issue differently.

Nowadays in America, researchers can count on grants and loans, a simplified and quick registration procedure. In Europe you do not need to pay a registration fee. Additionally, you can become a participant in a program that provides exclusive rights to protect interests.

Specialized regulatory rights make it possible to protect the interests of developers of rare drugs in different countries. At the same time, the laws state that no competitor will have the right to register a similar drug on the medicine market for a long period of time. This period of protection in Japan lasts five years, in Europe - ten, and in America - seven.

What about in Russia?

Until quite recently, the term “orphan diseases” was not known in our country, the characteristics of rare diseases had not been worked out, and the concept of “rare medicine” did not exist. Only a few years ago, officials presented the public with a list according to which a particular disease can be considered rare, and also understand which group it belongs to.

Despite the entry into force of this law, the concept of “orphan drug” in the Russian Federation has not been developed to this day. There are no mechanisms for attracting the attention of the scientific community to the invention of new medicines and approaches to diagnosis, prevention and therapy.

As a result, there are practically no drugs on the market for orphan diseases produced by Russian pharmaceutical manufacturers. Mostly medicines are imported; they necessarily undergo a full and lengthy registration scheme, stretched over a long period. Due to bureaucratic difficulties, even with the invention of an effective drug, treating patients with it in Russia is difficult.

What benefits should I expect?

Since the term “orphan diseases” is known to officials, an algorithm for helping patients with rare diseases was thought out. It includes simplified procedures for obtaining medications, some of which provide significant benefits.

The program for additional provision of medicines has been implemented in the Russian Federation since 2005. It makes it possible to provide drugs to several groups of citizens in need of social assistance. The situation is regulated by Law No. 159, adopted on March 9, 2007. Subsequently, several categories of special diseases were identified from the general list, which turned out to be much more costly than others.

Financially problematic nosologies:

• insulin-dependent type diabetes;
• oncological hematology;
• hemophilia;
• cystic fibrosis;
• postoperative state when tissue and organ transplantation was performed.

• pituitary dwarfism;
• multiple sclerosis;

But diabetes was removed from the list.

For each of these pathologies, you can count on a free supply of medications for outpatient treatment. All costs for medicines are covered by the federal budget.

Features of the Russian program

As you can see, the list of diseases includes not only orphan, but also socially significant pathologies. When developing legal norms, officials did not seek to improve the quality of life of people with rare diseases, but simply identified a list of the most costly health problems.

In 2014, a state guarantee program was developed. According to this document, if a person is registered in Russia and registered as sick, if this disease is on a special list, he can count on being provided with medicines.

Patients are supplied only with those drugs that are included in a special list. It is important that the disease is chronic or life-threatening. To ensure that medications are supplied in a timely manner, a federal registry has been developed that stores information about all patients in need of support. To keep it correct, it is regularly updated with new data coming from the regions.

Bureaucracy: what does it look like?

What should a person do if he has been diagnosed with a disease included in the above list? First of all, it is necessary to verify that the medical organization where the diagnosis was made sent a request to officials. This happens within the first five days from the moment the disease is detected. After receiving the request, the executive branch must include data about the patient in the regional segment. This will be the key to providing medicines in the future.

All diseases on the list can only be treated with expensive medications. Taking this fact into account, officials developed a targeted assistance program. In comparison with the one called “Seven Nosologies,” this system of care does not have a strict list of drugs available for purchase.

To this day, it is unclear what medications in Russia people diagnosed with orphan diseases can apply for. Some believe that it is necessary to use the list of rare drugs developed by the formulary committee, whose documents are not regulatory.

When an orphan disease is discovered, try to make every effort to defeat the bureaucratic machine and obtain help from the state. Remember that most patients die before the age of five. Only timely therapy with the most effective, latest medications can give the child a long life in relative comfort.

Hypertension, gastritis, diabetes mellitus are quite common diseases. Our friends, loved ones, and, in the end, have them. But there are a number of very rare pathologies. New diseases that people have not encountered before are discovered every year. So, what is an orphan disease? How to deal with this?

Orphan disease: what is it?

Orphan diseases are very rare diseases. They are also called “orphans”. However, there are already about seven thousand such rare pathologies. Fortunately, the likelihood of finding one of them is very low. If we consider the entire population of the Earth, then rare orphan diseases occur in one person out of two thousand. In different countries, statistics on orphan pathologies differ depending on the standard of living of the population, its genetic characteristics, etc. For example, in Europe, leprosy epidemics have long since sunk into oblivion, but in India the percentage of patients is much higher than in other countries.

Since it is not commercially profitable for individuals to invest in the search for vaccines and cures for rare diseases, the government of countries stimulates this process at the state level. In addition, people suffering from orphan pathologies need support and benefits. The Decree on Orphan Diseases, adopted by the Government of the Russian Federation on April 26, 2012, is intended to regulate all issues related to the provision of medical and other assistance to such persons.

Origins of orphan diseases

Most often, orphan diseases are congenital and caused by human genetics. They can be detected immediately after the birth of a child or in childhood. But the vast majority of diseases become obvious only over time, as a person grows up.

Among rare diseases one can find pathologies, the appearance of which is caused by infectious, autoimmune and toxic processes in the body. A good help for the development of orphan diseases is increased radiation and poor environmental conditions, as well as infections suffered in childhood, weakened immunity and heredity.

Orphan diseases are often difficult to cure, so they gradually develop into a chronic stage. Since it is impossible to stop pathological processes in some cases, the quality of life of a sick person gradually deteriorates, and eventually death occurs. The main goal of all treatment procedures is to increase life expectancy, reduce symptoms and increase the patient’s capacity.

Orphan diseases: order of the Ministry of Health of the Russian Federation

In Russia, an orphan disease is considered to be one that occurs with a frequency of 10:100,000. The order on orphan diseases issued by the government of the Russian Federation in 2012 clearly outlined the list of rare diseases. There are 230 names: fragile X chromosome, cry of the cat, Lejeune syndrome, Williams syndrome, etc.

The government decree also contains rules for registering persons suffering from orphan diseases and the procedure for providing them with medical care.

If you believe the data of the Russian Academy of Medical Sciences (Russian Academy of Medical Sciences), then in the Russian Federation about 300,000 people suffer from orphan pathologies. Regional authorities finance orphan diseases and their treatment at the expense of the local budget.

An important procedure that allows timely detection of one of the five rare hereditary diseases in a newborn is carried out in all hospitals after the birth of the baby completely free of charge. It's called "neonatal screening".

24 orphan diseases that seriously threaten human life

An official list of rare diseases that most often lead to early death or disability of patients in Russia has also been compiled.

The first place is occupied by such an orphan disease as hemolytic-uremic syndrome. HUS has a toxicological nature, leading to renal failure and dehydration.

This list also includes Marchiafava-Miceli disease, associated with the destruction of red blood cells in the blood, unspecified aplastic anemia, Stewart-Prower disease and Evans syndrome. Evans syndrome is a combination of autoimmune hemolytic anemia and a phenomenon such as autoimmune thrombocytopenia.

Another item on the list is maple syrup disease: a genetic disease that causes certain substances to accumulate in the urine, causing it to smell like maple wood.

Disorders of fatty acid metabolism, homocystinuria, glutaricaciduria, galactosemia - all these diseases are also included in the list and lead to serious consequences.

Hemolytic-uremic syndrome

This disease was first described in 1955. Soon, Gasser's disease was included in the world list of rare orphan diseases.

The syndrome is more common in children than in adults. It provokes hemolytic anemia and renal failure. Manifests itself against the background of diarrhea and upper respiratory tract infection.

There has been a connection between the development of the disease and the use of oral contraceptives, drugs, as well as the presence of AIDS or systemic lupus erythematosus in the patient.

The disease can be hereditary and transmitted from parents to children according to a dominant or recessive trait.

Acquired hemolytic uremic syndrome is provoked by toxins and bacteria that can cause damage. The vast majority of cases (about 70%) are provoked by infection with E. coli O157:H7. You can become infected with it from cats, as well as after eating meat that has not undergone sufficient heat treatment, untreated water and unpasteurized milk.

Cystic fibrosis is the most common orphan disease in the Russian Federation

Of all the orphan diseases, cystic fibrosis is the most common in the Russian Federation. This disease is considered hereditary and manifests itself in a child from the first days of life.

The cause of pathological changes in the body is a gene mutation, which leads to increased accumulation of viscous mucus in certain organs. There are several forms of cystic fibrosis: pulmonary intestinal, bronchopulmonary and intestinal.

When the bronchi and lungs are affected, from about two years of age, the child begins to suffer from a cough, accompanied by thick sputum. When a bacterial infection joins the pathological process, pneumonia develops.

The intestinal form is accompanied by reduced enzymatic activity of the gastrointestinal tract, as a result of which undigested food begins to rot in the intestines. This leads to intoxication of the body, stool disturbances, vomiting, etc.

Treatment of orphan diseases in acute form is carried out in a hospital. The main goal of therapy for cystic fibrosis is the timely evacuation of mucus from the body (“N-acetylcysteine”), increasing the enzymatic activity of the stomach and pancreas (“Pancreatin”, “Festal”).

Chronic mucous candidiasis

An orphan disease such as chronic mucous candidiasis is associated with dysfunction of leukocytes. This leads to the fact that the skin and mucous tissues of the body become easy prey for fungi of the genus Candida. This disease is caused by human genetics and is inherited.

What symptoms are characteristic of chronic mucous candidiasis?

1. Firstly, the skin, nails and mucous tissues are affected by the fungus.
2. Secondly, a person constantly feels weak and lethargic. Suffering from low blood pressure.
3. Thirdly, with the disease, blood sugar levels drop and seizures appear.
4. Fourthly, hair loss and skin hyperpigmentation may occur.

Chronic mucous candidiasis provokes the development of chronic and hepatitis. In children, the disease causes slow growth and development.

Diagnosis occurs through genetic research.

The main method of therapy is taking antifungal agents (Nystatin, Clotrimazole, etc.).

Zygomycosis

The list of rare orphan diseases also includes zygomycosis.

This disease begins to develop after infection with dimorphic fungi. They enter the body by inhalation or through damaged skin. Dimorphic fungi live in places with high humidity - in soil, rotting plants. In some cases, they appear on moldy fruits, cheese and bread.

It is almost impossible to get zygomycosis with a healthy immune system. There are only a few cases where a healthy person became infected with fungi after a penetrating wound, as well as an insect bite.

Zygomycosis mainly affects people with very weakened immune systems:

• patients with diabetes mellitus;
• suffering from prolonged acidosis;
• who have undergone organ transplantation;
• undergoing treatment with glucocorticoids;
• infected with AIDS.

Zygomycosis gradually leads to necrosis of tissues and vessels onto which the fungi enter. Therefore, treatment is aggressive and the most effective methods of therapy today are tissue excision and the use of amphotericin in large doses.

Lynch syndrome

Orphan diseases, the list of which is updated annually with new names, includes Lynch syndrome - colon cancer, which is inherited. In this case, a malignant tumor develops as a result of genetic pathology and mutation of several genes. That is why it does not belong to the category of ordinary cancers.

This syndrome, unfortunately, is common: in Europe it is found in one person out of two thousand. A similar diagnosis is made in cases where at least three relatives of the patient (first order) were diagnosed with colon cancer before the age of 50 years.

Carriers of mutant genes are predisposed not only to malignant tumors of the intestine, but also to the endometrium, ovaries, stomach, brain, etc.

The syndrome is diagnosed according to the Amsterdam II criteria.

Timoma

The list of rare orphan diseases includes thymoma. This name covers all types of thymus tumors. As a rule, they are benign, but this definition is very arbitrary. Without proper treatment, these tumors can metastasize and, after removal, recur.

During the period of growth, thymoma practically does not make itself felt. When it reaches a certain size, symptoms of compression of nearby organs appear, swelling of the neck veins occurs, and shortness of breath and rapid heartbeat are also observed. Children's thymoma can significantly deform the chest.

In addition to the above symptoms, you may experience:

• puffiness of the face;
• exacerbation of respiratory diseases;
• pain radiating to the shoulder, neck and between the shoulder blades.

Thymoma is diagnosed using X-ray examination and computed tomography.

The main method of treatment is surgery. Removal of the tumor is simply necessary, otherwise it will grow and the patient’s well-being will deteriorate.

Sarcoma of bones and articular cartilage of the extremities

Sarcomas (or malignant tumors) of bones and articular cartilage are orphan diseases. The list of rare pathologies includes sarcoma, since it is not a typical cancer.

Classic cancer is formed by epithelial cells, and sarcoma is not limited in this regard - it can affect bone tissue (osteosarcoma), cartilage (chondrosarcoma), muscle (myosarcoma), fat (liposarcoma), and the walls of blood and lymphatic vessels. In other respects, sarcoma is similar to an ordinary malignant tumor, only it grows at an accelerated pace.

The real reasons for the development of this disease have not yet been established. Scientists include tumor-provoking factors:

• exposure to carcinogens;
• influence of harmful chemicals;
• radiation;
• virus infection;
• injuries.

Early diagnosis of the disease is almost impossible. Sarcoma hardly manifests itself, except for a dull pain in the area where the tumor is located. Chemotherapy, surgery, radiotherapy are the main methods of treating the disease.

Retinoblastoma

Orphan diseases, the list of which in the Russian Federation consists of 230 items, includes retinoblastoma. This disease is associated with the appearance of a malignant tumor on the retina. It is genetically determined: caused by a mutation of the Rb gene.

Retinoblastoma begins to develop in infancy and worsens by age two. The disease can be considered a childhood disease, since the vast majority of cases are diagnosed during the first five years of life.

The main symptoms of the disease include an unnatural glow of the pupil, eye pain and a sharp deterioration in vision. But it is almost impossible to identify these symptoms in an infant.

Diagnosis requires MRI, ultrasound, CT.

Conservative methods are used for treatment, but they are expensive: for a five-week course of radiation therapy, clinics charge from 10 to 12 thousand euros (approximately 100 thousand rubles). Cryotherapy and photocoagulation are widely used. The main advantage of these procedures is that they preserve the patient's vision.

Hodgkin's disease

Another common orphan disease is lymphogranulomatosis (Hodgkin's disease). The disease affects only organs containing lymphoid tissue. Therefore, the most characteristic symptom for it is enlarged lymph nodes. First of all, pathological processes affect the abdominal and thoracic cavities. As a result, the patient feels chest pain, shortness of breath, cough and loss of appetite. In difficult cases, enlarged lymph nodes can put pressure on the stomach and even displace the kidneys.

Fever, sweating and frequent chills accompany the development of Hodgkin's disease.

Scientists have not discovered the reasons that trigger pathological processes in lymphoid tissue. There are suggestions that the development of the disease is triggered by the Epstein-Barr virus or immunodeficiency states.

The treatment of lymphogranulomatosis is carried out by an oncologist and hematologist. The patient undergoes an ultrasound and biopsy, CT or MRI procedure.

If the disease is not treated, death occurs within 10 years. The main methods of therapy are taking antitumor drugs and radiation treatments.

Thus, there are many rare diseases. Some of them are found in citizens of absolutely all countries, while others are found only in specific regions of the planet. Medical and financial support for patients suffering from rare diseases is included in the social programs of all developed countries.

Muscular dystrophies and atrophies are rare diseases. According to Russian legislation (Federal Law of November 21, 2011 No. 323-FZ “On the fundamentals of protecting the health of citizens in the Russian Federation”) rare (orphan) diseases are diseases that are common no more than 10 cases of disease per 100 thousand population.

The same federal law establishes several points regarding rare diseases (Article 44):

Now Resolution No. 403 provides the following list of diseases:

1. Hemolytic-uremic syndrome
2. Paroxysmal nocturnal hemoglobinuria (Marchiafava-Micheli)
3. Aplastic anemia, unspecified
4. Hereditary deficiency of factors (fibrinogen), VII (labile), X (Stuart-Prower)
5. Idiopathic thrombocytopenic purpura (Evans syndrome)
6. Defect in the complement system
7. Precocious puberty of central origin
8. Disorders of aromatic amino acid metabolism (classical phenylketonuria, other types of hyperphenylalaninemia)
9. Tyrosinemia
10. Maple syrup disease
11. Other types of branched chain amino acid metabolic disorders (isovaleric acidemia, methylmalonic acidemia, propionic acidemia)
12. Fatty acid metabolism disorders
13. Homocystinuria
14. Glutaric aciduria
15. Galactosemia
16. Other sphingolipidoses: Fabry disease (Fabry-Anderson), Niemann-Pick
17. Mucopolysaccharidosis, type I
18. Mucopolysaccharidosis, type II
19. Mucopolysaccharidosis, type VI
20. Acute intermittent (hepatic) porphyria
21. Copper metabolism disorders (Wilson's disease)
22. Incomplete osteogenesis
23. Pulmonary (arterial) hypertension (idiopathic) (primary)
24. Juvenile arthritis with systemic onset

For our part, we sent a request to the Ministry of Health with questions about how a particular disease is developed and included in the Register, how a patient organization can contribute, how it is collected and where one can see the official statistics of rare diseases in Russia.

What you can do now:

Full text of the Decree of the Government of the Russian Federation dated April 26, 2012 N 403 (as amended on September 4, 2012)

“On the procedure for maintaining the Federal Register of Persons Suffering from Life-threatening and Chronic Progressive Rare (Orphan) Diseases Leading to a Reduction in the Life Expectancy of Citizens or Their Disability, and its Regional Segment”
(together with the “Rules for maintaining the Federal Register of Persons Suffering from Life-Threatening and Chronic Progressive Rare (Orphan) Diseases Leading to a Reduction in the Life Expectancy of Citizens or Their Disability, and its Regional Segment”)

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On further improvement of the organization of medical care for residents of Moscow suffering from diseases included in the list of life-threatening and (orphan) diseases (as amended on April 11, 2017)

Document title:
Document number:	139
Document type:
Receiving authority:
Status:	Active
Published:
Acceptance date:	February 21, 2014
Start date:	February 21, 2014
Revision date:	April 11, 2017

Moscow government
MOSCOW HEALTH DEPARTMENT

ORDER

On further improvement of the organization of medical care for residents of Moscow suffering from diseases included in the list of life-threatening and chronic progressive rare (orphan) diseases

Document with changes made:
;
.
____________________________________________________________________

In accordance with, , Decree of the Government of the Russian Federation of April 26, 2012 N 403 (as amended on September 4, 2012) “On the procedure for maintaining the Federal Register of persons suffering from life-threatening and chronic progressive rare (orphan) diseases that lead to citizens or their disability, and its regional segment", by order of the Ministry of Health of the Russian Federation of November 19, 2012 N 950n "On the forms of documents for maintaining the regional segment of the Federal Register of Persons Suffering from Life-threatening and Chronic Progressive Rare (orphan) Diseases, Leading to a Reduction in the Life Expectancy of Citizens or Their Disability , and the procedure for their presentation", , by Moscow Government Decree of October 4, 2011 N 461-PP (as amended on May 28, 2013) "On approval of the State Program of the City of Moscow for the medium term (2012-2016) "Development of healthcare in the city of Moscow (Capital healthcare)"

I order:

1. Approve the Temporary Regulations for the organization of medical and medicinal drugs in the list of life-threatening and chronic progressive diseases that are rare to reduce the life expectancy of citizens or their disability (hereinafter referred to as the Regulations) (Appendix).

2. To the Deputy Head of the Moscow City Health Department E.Yu. Khavkina:

2.1. With the involvement of relevant chief freelance specialists of the Moscow City Health Department, organize medical and drug provision for Moscow residents suffering from diseases included in the list of life-threatening and chronic progressive rare (orphan) diseases, and carry out constant monitoring of its implementation in accordance with the Regulations.

2.2. Exercise constant control over the maintenance of the Moscow segment of the Federal Register of Persons Suffering from Rare (Orphan) Diseases.
(Clause 2 as amended, put into effect by order of the Moscow Department of Health dated April 11, 2017 N 272.

3. The First Deputy Head of the Moscow City Health Department, V.V. Pavlov, shall ensure financing of the costs of drug provision for Moscow residents suffering from diseases included in the list of life-threatening and chronic progressive rare (orphan) diseases, at the expense and within the budget allocations provided for by the Department healthcare of the city of Moscow for the corresponding financial year and planning period to provide medicines, medical products and specialized medical nutrition to citizens according to the list of diseases and other categories of citizens whose social support measures fall under the jurisdiction of the city of Moscow.
by order of the Moscow Department of Health dated April 11, 2017 N 272.

4. Deputy Head of the Moscow Department of Health, Yu.O. Antipova, ensure centralized procurement of medicines and specialized medical nutrition products used in the treatment of patients with diseases included in the list of life-threatening and chronic progressive rare (orphan) diseases, in accordance with Appendix 4 to the Regulations in accordance with applications submitted by the main freelance specialists of the Moscow Department of Health, as well as medicines not included in Appendix 4 to the Regulations, at the request of the chief freelance specialists in the presence of a decision of the medical commission of the medical organization.
(Clause as amended, put into effect by order of the Moscow Department of Health dated April 11, 2017 N 272.

5. Entrust control over the implementation of this order to the first deputy head of the Moscow Department of Health, N.F. Plavunov.

6. The head of the Pharmacy Department of the Moscow City Health Department, K.A. Kokushkin, shall monitor the provision of medications and specialized medical nutrition products to Moscow residents suffering from diseases included in the list of life-threatening and chronic progressive rare (orphan) diseases.
(The point was additionally included by order of the Moscow Department of Health dated April 11, 2017 N 272)

Minister of the Moscow Government,
Head of the Department
health care of the city of Moscow
G.N. Golukhov

Application. Temporary regulations for the organization of medical and drug provision for Moscow residents suffering from diseases included in the list of life-threatening and chronic progressive rare (orphan) diseases leading to...

Application
to the order of the Department
health care of the city of Moscow
dated February 21, 2014 N 139

Temporary regulations for the organization of medical and drug provision for Moscow residents suffering from diseases included in the list of life-threatening and chronic progressive rare (orphan) diseases leading to a reduction in the life expectancy of citizens or their disability

1. General provisions

1.1 Temporary regulations for organizing the provision of medical care and drug provision to residents of Moscow suffering from diseases included in the list of life-threatening and chronic progressive rare (orphan) diseases leading to a reduction in the life expectancy of citizens or their disability (hereinafter referred to as the Regulations) was developed in accordance with:

1.1.1. Law of the Russian Federation of November 21, 2011 N 323-FZ “On the fundamentals of protecting the health of citizens in the Russian Federation”.

1.1.2. Decree of the President of the Russian Federation of June 1, 2012 N 761 "On the National Strategy of Action in the Interests of Children for 2012-2017".

1.1.3. Decree of the Government of the Russian Federation dated April 26, 2012 N 403 (as amended on September 4, 2012) “On the procedure for maintaining the Federal Register of Persons Suffering from Life-threatening and Chronic Progressive Rare (orphan) Diseases Leading to a Reduction in Life Expectancy of Citizens or Their Disability, and its Regional segment".

1.1.4. Order of the Ministry of Health of the Russian Federation dated November 19, 2012 N 950n “On the forms of documents for maintaining the regional segment of the Federal Register of Persons Suffering from Life-threatening and Chronic Progressive Rare (Orphan) Diseases Leading to a Reduction in the Life Expectancy of Citizens or Their Disability, and the Procedure for Their Submission” .

1.1.5. Order of the Ministry of Health and Social Development of Russia dated May 5, 2012 N 502n (as amended on December 2, 2013) “On approval of the procedure for the creation and activities of a medical commission of a medical organization”).

1.1.6. Law of the city of Moscow of March 17, 2010 N 7 “On health protection in the city of Moscow”.

1.1.7. Decree of the Moscow Government of October 4, 2011 N 461-PP (as amended on May 28, 2013) “On approval of the State Program of the City of Moscow for the mid-term period (2012-2016) “Development of healthcare in the city of Moscow (Capital healthcare).”

1.1.8. Order of the Moscow Department of Health dated April 15, 2013 N 352 “On the procedure for maintaining the Moscow segment of the Federal Register of Persons Suffering from Rare (Orphan) Diseases.”

1.1.9. Order of the Moscow Department of Health dated February 10, 2011 N 116 (as amended on July 19, 2012) “On the creation of a Commission to consider the provision of medicines and medical products to medical institutions and the population of the city of Moscow” (together with the “Regulations on the Commission to consider issues of providing medicines and medical products to medical institutions and the population of the city of Moscow"),

1.2. In accordance with the Decree of the Government of the Russian Federation dated April 26, 2012 N 403 (as amended on September 4, 2012 N 882) “On the procedure for maintaining the Federal Register of persons suffering from life-threatening and chronic progressive rare (orphan) diseases leading to a reduction in the life expectancy of citizens or their disability, and its regional segment" and by order of the Moscow Department of Health dated April 15, 2013 N 352 "On the procedure for maintaining the Moscow segment of the Federal Register of Persons Suffering from Rare (orphan) Diseases" life-threatening and chronic progressive rare (orphan) diseases were included in the zone of therapeutic responsibility ) diseases and approved benefit category codes:

	Category code benefits	List of diseases
		Hereditary deficiency of factors II (fibrinogen), VII (labile), X (Stuart-Prower)
		Defect in the complement system
		Tyrosinemia
		Maple syrup disease
		Other types of branched chain amino acid metabolic disorders (isovaleric acidemia, methylmalonic acidemia, propionic acidemia)
		Homocystinuria
		Glutaric aciduria
		Galactosemia
		Mucopolysaccharidosis, type I
		Mucopolysaccharidosis, type II
		Mucopolysaccharidosis, type VI
		Acute intermittent (hepatic) porphyria
		Incomplete osteogenesis
		Pulmonary (arterial) hypertension (idiopathic) (primary)

(Clause 1.2 as amended, put into effect by order of the Moscow Department of Health dated October 24, 2014 N 925.

1.3. The powers to provide medical care for patients with rare (orphan) diseases are exercised by the Moscow Department of Health.

1.4. The regulations determine the routing of provision and treatment of patients with rare (orphan) diseases, taking into account the centralization of costs.

1.5. Medical organizations of the state healthcare system of the city of Moscow (hereinafter - Medical organizations) involved in the provision, treatment and monitoring of patients with rare (orphan) diseases are defined in Appendix 1; Pharmacy organizations involved in providing medications and specialized medical nutrition products to patients with rare (orphan) diseases on an outpatient basis are listed in Appendix 2.

1.6. Medical care for patients with rare (orphan) diseases is provided free of charge.

1.7. Additional laboratory and/or instrumental studies, if they are not carried out within the framework of the territorial compulsory health insurance program of the city of Moscow, can be performed on a paid basis.

2. The procedure for providing medical care to patients with rare (orphan) diseases

(Section as amended, put into effect by order of the Moscow Department of Health dated October 24, 2014 N 925.

2.1. A specialist doctor of a medical organization involved in the provision of primary health care, if a patient (receiving medical care in this medical organization) is suspected of having a rare (orphan) disease, refers him for consultation to a district specialist of the appropriate profile.

2.2. The district specialist organizes an examination of the patient, based on the results of which he refers him to a medical organization for a consultation with the chief freelance specialist of the Moscow Department of Health (hereinafter referred to as the Chief Specialist) in accordance with Appendix 3 to establish a final diagnosis.

2.3. Chief specialist:

2.3.1. Draws up a commission report (with the involvement of doctors from a medical organization) with the obligatory indication of the rationale for the diagnosis, the degree of activity of the disease, its complications, the functional disorders caused by them and recommendations for treatment.

2.3.2. Within five working days from the date of diagnosis of the disease, receipt of information about the diagnosis, sends information about individuals in the form provided in Appendix 1 to the order of the Ministry of Health of the Russian Federation dated November 19, 2012 N 950n, to the State Budgetary Healthcare Institution of the city of Moscow "Morozovskaya Children's City Clinical Hospital of the Moscow Department of Health" (hereinafter - "GBUZ "Morozovskaya Children's City Clinical Hospital of the Moscow City Health Department") for inclusion in the Moscow segment of the Federal Register of persons suffering from rare (orphan) diseases;
(Clause 2.3.2 as amended, put into effect by order of the Moscow Department of Health dated April 11, 2017 N 272.

2.3.3. Sends a copy of the commission report to:

- to the Moscow City Health Department;

- heads of medical organizations providing inpatient care, in accordance with Appendix 1;

- to a medical organization providing primary health care.

2.3.4. Refers a patient with a rare (orphan) disease to a medical organization providing inpatient care, in accordance with Appendix 1, for scheduled treatment on a regular basis.

2.3.5. Monitors the provision of medical care to persons suffering from rare (orphan) diseases included in the Moscow segment of the Federal Register at least once every 12 months.

2.4. Dispensary observation of the patient is carried out by a district specialist in the profile of the relevant disease (Appendix 3).

2.5. The state budgetary healthcare institution of the city of Moscow "Morozov Children's City Clinical Hospital of the Moscow City Health Department" carries out:
(Paragraph as amended, put into effect by order of the Moscow Department of Health dated April 11, 2017 N 272.

Maintaining the Moscow segment of the Federal Register of Persons Suffering from Rare (Orphan) Diseases with changes made within five working days from the date of receipt of information from medical organizations;

- registration of patients with rare (orphan) diseases in the city of Moscow in accordance with the order of the Moscow Department of Health dated April 15, 2013 N 352 “On the procedure for maintaining the Moscow segment of the Federal Register of Persons Suffering from Rare (orphan) Diseases.”

3. The procedure for ensuring and accounting for the consumption of drugs used in the treatment of patients suffering from rare (orphan) diseases

3.1. Profile chief specialist:

3.1.1. Forms an application for the purchase of medicines included in Appendix 4 for the treatment of patients with rare (orphan) diseases included in the area of ​​therapeutic responsibility on the basis of Order of the Moscow Department of Health dated April 15, 2013 N 352 “On the procedure for maintaining the Moscow segment of the Federal Register of Persons, suffering from rare (orphan) diseases" according to their profile (hereinafter referred to as the Application).

3.1.2. Submits an application to the commission for consideration of issues of providing medicines and medical products to medical institutions and the population of the city of Moscow and, based on the results of its approval, forms an order for medical organizations.

3.2. The Commission for the Review of Issues of Providing Medicines and Medical Products to Medical Institutions and the Population of the City of Moscow (hereinafter referred to as the Commission) reviews the application of the chief specialist, approves it and transfers it to the Department of Pharmacy of the Department of Healthcare (annually).

3.3. The clause is no longer valid - ..

3.4. The clause has lost force - order of the Moscow Department of Health dated April 11, 2017 N 272..

3.5. The clause has lost force - order of the Moscow Department of Health dated April 11, 2017 N 272..

3.6. Records of medications dispensed to patients with rare (orphan) diseases are maintained by an organization that provides information support for drug provision to certain categories of citizens entitled to receive state social assistance.

3.7. Medication provision (drugs for parenteral administration, tablets and other forms of drugs) for patients with rare (orphan) diseases is carried out in specialized departments of medical organizations providing inpatient care, as well as in day hospitals in accordance with Appendix 1.

3.8. When a patient receives tablets and other forms of medications, specialized medical nutrition products, provision of them is allowed through pharmacies (Appendix 2).

3.9. Monitoring the implementation of these Regulations is carried out by the Moscow City Health Department by conducting inspections, identifying violations and monitoring their elimination.

Appendix 1. Register of medical organizations of the state healthcare system of the city of Moscow involved in medical and drug provision for patients with diseases included in the list of life-threatening and chronic progressive...

Appendix 1

medical and medicinal
providing residents of the city of Moscow,
suffering from diseases including
to the list of life-threatening and
chronic progressive rare
(orphan) diseases leading to
to a reduction in life expectancy
citizens or their disabilities

by order of the Department
health care of the city of Moscow
dated April 11, 2017 N 272. -
See previous edition)

Register of medical organizations of the state healthcare system of the city of Moscow participating in the medical and drug provision of patients with diseases included in the list of life-threatening and chronic progressive rare (orphan) diseases

	Name of the medical organization of the state healthcare system of the city of Moscow
	GBUZ "MKSC DZM"*	111123, Moscow, Entuziastov highway, 60
	GBUZ "Scientific and Practical Center for Mental Health of Children and Adolescents named after G.E. Sukhareva, Department of Health"**	119334, Moscow, 5th Donskoy proezd, 21a
	GBUZ City Clinical Hospital named after S.P. Botkin, Department of Health*	125284, Moscow, 2nd Botkinsky lane, 5
	State Budgetary Healthcare Institution City Clinical Hospital No. 1 named after N.I. Pirogov DZM*	117049, Moscow, Leninsky Prospekt, 8
	GBUZ "City Clinical Hospital No. 15 named after O.M. Filatov DZM"*	113539, Moscow, Veshnyakovskaya st., 23
	GBUZ "GKB N 52 DZM"*/**	123182, Moscow, Pekhotnaya st., 3
	GBUZ "City Clinical Hospital named after D.D. Pletnev DZM"*	105077, Moscow, 11th Parkovaya St., 32
	GBUZ "City Clinical Hospital named after V.V. Veresaev DZM"*	127644, Moscow, Lobnenskaya st., 10
	State Budgetary Healthcare Institution "Scientific and Practical Center for Special Assistance to Children of the Department of Health"	119620, Moscow, Aviatorov street, no. 8
	GBUZ "Morozovskaya Children's City Clinical Hospital, Department of Health"	119049, Moscow, 4th Dobryninsky lane, 1/9
	GBUZ "OD N 4 DZM"**	115304, Moscow, Medikov St., 7
	GBUZ "OD N 5 DZM"**	109451, Moscow, Perervinsky Boulevard, 5, building 1
	GBUZ "City Clinical Hospital named after S.S. Yudin DZM"**	115446, Moscow, Kolomensky proezd, 4, therapeutic building.
	GBUZ "DGKB No. 9 named after G.N. Speransky DZM"**	125040, Moscow, Leningradsky Prospekt, 16
	GBUZ "St. Vladimir Children's City Clinical Hospital"*	107014, Moscow, Rubtsovsko-Dvortsovaya st., 1/3
	GBUZ "DGKB N 13 named after N.F. Filatov DZM"**	123001, Moscow, Sadovaya-Kudrinskaya st., 15
	Branch No. 1 "GBUZ SE N 212 DZM"**	119634, Moscow, Sculptor Mukhina St., 14
	GBUZ "GP N 218 DZM"**	127642, Moscow, Shokalsky proezd, 8
	Branch No. 3 "GBUZ SE N 68 DZM"**	119270, Moscow, Frunzenskaya embankment, 38/1
	Branch No. 4 "GBUZ SE N 11	117393, Moscow, Novatorov str., 5
	Branch No. 1 "GBUZ SE N 201 DZM"**	124683, Moscow, Zelenograd, building 225, building 1

________________

* Medical organizations that provide parenteral administration of drugs.

** Medical organizations that prescribe tablets and other forms of medications and specialized medical nutrition products.

Appendix 2. Register of pharmacy organizations of the State Budgetary Healthcare Institution of Moscow "Center for Drug Supply of the Moscow Department of Health" participating in the dispensing of medications intended for patients with diseases included in...

Appendix 2
to the temporary regulations of the organization
medical and medicinal
providing residents of the city of Moscow,
suffering from diseases including
to the list of life-threatening and
chronic progressive rare
(orphan) diseases leading to
to a reduction in life expectancy
citizens or their disabilities
(As amended as put into effect
by order of the Department
health care of the city of Moscow
dated April 11, 2017 N 272. -
See previous edition)

Register of pharmacy organizations of the State Budgetary Healthcare Institution of Moscow "Center for Drug Supply of the Moscow City Health Department" participating in the dispensing of medications intended for patients with diseases included in the list of life-threatening and chronic progressive rare (orphan) diseases

	Name of pharmacy organization	Pharmacy organization address
	Pharmacy N 12 GBUZ "TsLO DZM"	125284, Moscow, Begovaya st., 11
	Pharmacy N 46 GBUZ "TsLO DZM"	115419, Moscow, Shabolovka st., 32
	Pharmacy N 5 GBUZ "TsLO DZM"	107031, Moscow, Petrovka st., 19, building 1
	Pharmacy N 8 GBUZ "TsLO DZM"	119034, Moscow, Smolensky Boulevard, 3/5, building 1b
	Pharmacy N 35 GBUZ "TsLO DZM"	111399, Moscow, Novogireevskaya st., 20/34, building 2
	Pharmacy N 20 GBUZ "TsLO DZM"	127018, Moscow, Soviet Army St., 17/52
	Pharmacy point N 3-1 GBUZ "TsLO DZM", located in the GBUZ of the city of Moscow City Clinical Hospital N 1 named after N.I. Pirogov of the Moscow Health Department	119049, Moscow, Leninsky Prospekt, 10, building 10
	Pharmacy point No. 5-2 "TsLO DZM", located in the State Budgetary Healthcare Institution "Morozovskaya Children's City Clinical Hospital DZM"	119049, Moscow, Mytnaya st., 24
	Pharmacy N 71 GBUZ "TsLO DZM"	123436, Moscow, Marshala Rybalko st., 1

Appendix 3. Composition of the main freelance specialists of the Moscow Department of Health responsible for organizing work with patients suffering from rare (orphan) diseases

Appendix 3
to the temporary regulations of the organization
medical and medicinal
providing residents of the city of Moscow,
suffering from diseases including
to the list of life-threatening and
chronic progressive rare
(orphan) diseases leading to
to a reduction in life expectancy
citizens or their disabilities
(As amended as put into effect
by order of the Department
health care of the city of Moscow
dated April 11, 2017 N 272. -
See previous edition)

Composition of the main freelance specialists of the Moscow Department of Health responsible for organizing work with patients suffering from rare (orphan) diseases

	Disease	ICD code X	Chief freelance specialist of the Moscow Department of Health
			adult network	children's network
	Hemolytic-uremic syndrome		nephrologist	nephrologist
	Paroxysmal nocturnal hemoglobinuria (Marchiafava-Micheli)		hematologist	hematologist
	Aplastic anemia, unspecified		hematologist	hematologist
	Hereditary deficiency of factors II (fibrinogen), VII (labile), X (Stuart-Prower)		hematologist	hematologist
	Idiopathic thrombocytopenic purpura (Evans syndrome)		hematologist	hematologist
	Defect in the complement system		allergist-immunologist	allergist-immunologist
	Precocious puberty of central origin			pediatric endocrinologist
	Disorders of aromatic amino acid metabolism (classical phenylketonuria, other types of hyperphenylalaninemia)		psychiatrist
	Tyrosinemia		therapist
	Maple syrup disease		therapist
	Other types of branched chain amino acid metabolic disorders (isovaleric acidemia, methylmalonic acidemia, propionic acidemia)		therapist
	Fatty acid metabolism disorders		therapist
	Homocystinuria		therapist, neurologist
	Glutaric aciduria		therapist
	Galactosemia		therapist
	Other sphingolipidoses: Fabry disease (Fabry-Anderson), Niemann-Pick		nephrologist, therapist
	Mucopolysaccharidosis, type I		endocrinologist
	Mucopolysaccharidosis, type II		geneticist, endocrinologist
	Mucopolysaccharidosis, type VI		geneticist, endocrinologist
	Acute intermittent (hepatic) porphyria		gastroenterologist	hematologist
	Copper metabolism disorders (Wilson's disease)		gastroenterologist	neurologist
	Incomplete osteogenesis		traumatologist-orthopedist
	Pulmonary (arterial) hypertension (idiopathic) primary		cardiologist	pediatric cardiologist
	Juvenile arthritis with systemic onset		rheumatologist	rheumatologist

Appendix 4. Nomenclature of drugs used in the treatment of patients with diseases included in the list of life-threatening and chronic progressive rare (orphan) diseases

Appendix 4
to the temporary regulations of the organization
medical and medicinal
providing residents of the city of Moscow,
suffering from diseases including
to the list of life-threatening and
chronic progressive rare
(orphan) diseases leading to
to a reduction in life expectancy
citizens or their disabilities
(As amended as put into effect
by order of the Department
health care of the city of Moscow
dated April 11, 2017 N 272. -
See previous edition)

Nomenclature of drugs used in the treatment of patients with diseases included in the list of life-threatening and chronic progressive rare (orphan) diseases *

________________
* The text of the application is not provided on the website. - Database manufacturer's note.

Revision of the document taking into account
changes and additions prepared
JSC "Kodeks"

On further improvement of the organization of medical care for residents of Moscow suffering from diseases included in the list of life-threatening and chronic progressive rare (orphan) diseases (as amended on April 11, 2017)

Document title:
Document number:	139
Document type:	Order of the Moscow City Health Department
Receiving authority:	Moscow City Health Department
Status:	Active
Published:	The document was not published
Acceptance date:	February 21, 2014
Start date:	February 21, 2014
Revision date:	April 11, 2017

Orphan diseases were discussed at a round table in the Public Chamber of Russia by representatives of the medical and scientific communities, the social sphere, patient organizations, patients and parents of children with orphan diseases.

Public Chamber of the Russian Federation following a round table on the topic: “Problems of diagnosis and treatment of patients with rare diseases in the Russian Federation”

The Public Chamber of the Russian Federation (hereinafter referred to as the Public Chamber) on the initiative of the Public Chamber Commission for the Protection of Citizens' Health and Healthcare Development together with the Public Chamber Commission on Social Policy, Labor Relations, Interaction with Trade Unions and Support for Veterans, the public organization of disabled people "Union of Patients and Patient Organizations" on rare diseases" a round table was held on the topic "Problems of diagnosis and treatment of patients with rare diseases in the Russian Federation" (hereinafter referred to as the round table, event).

The event on orphan diseases was attended by members of the Public Chamber, representatives of the medical and scientific communities, the social sphere, patient organizations, patients and parents of children with orphan diseases.

Patients with orphan diseases in Russia, including children, are one of the unprotected groups of the population that face low awareness of rare diseases on the part of the medical community and delayed diagnosis. Around the world, the situation of people with rare diseases is an indicator of the effectiveness of the health system. In our country, the lives of people with orphan pathologies also began to change for the better, as evidenced by the following facts:

1) regulatory legal acts and methodological documents have been developed and adopted to create the basis for the diagnosis and treatment of patients with orphan diseases in Russia, in particular:

– Federal Law of November 21, 2011 No. 323-FZ “On the fundamentals of protecting the health of citizens in the Russian Federation”;

– Decree of the Government of the Russian Federation dated September 29, 2010 No. 771 “On the procedure for the import of medicines for medical use on the territory of the Russian Federation;

– Decree of the Government of the Russian Federation of April 26, 2012 No. 403 “On the procedure for maintaining the Federal Register of Persons Suffering from Life-Threatening and Chronic Progressive Rare (Orphan) Diseases Leading to a Reduction in Life Expectancy of Citizens or Their Disability, and its Regional Segment”;

– Decree of the Government of the Russian Federation of December 19, 2016 No. 1403 “On the Program of State Guarantees for Free Medical Care to Citizens for 2017 and for the Planning Period of 2018 and 2019”;

– Decree of the Government of the Russian Federation dated December 28, 2016 No. 2885-r on approval of the list of vital and essential drugs for medical use for 2017;

– Order of the Ministry of Health of the Russian Federation dated November 19, 2012 No. 950n “On the forms of documents for maintaining the regional segment of the Federal Register of Persons Suffering from Life-Threatening and Chronic Progressive Rare (Orphan) Diseases Leading to a Shortening of the Life Expectancy of Citizens or Their Disability, and the Procedure for Their Submission "(registered with the Ministry of Justice of the Russian Federation on December 14, 2012, registration No. 26130);

– letter of the Ministry of Health of the Russian Federation dated July 8, 2013 No. 21/6/10/2–4878 “On the inadmissibility of denying citizens suffering from rare diseases the provision of medicines at the expense of the constituent entities of the Russian Federation”;

2) the definitions of “rare diseases” and “orphan drugs” have been legislated; the procedure regulating the simplified registration of drugs for the treatment of rare diseases and the system for registering patients with rare diseases in the Russian Federation have been determined; Some patients with rare diagnoses began to receive treatment, including expensive ones.

However, unfortunately, the measures taken are not enough and many issues remain unresolved:

1. The situation with drug provision for “rare” patients remains tense. Children and adults with severe, chronic, disabling orphan diseases in some cases do not receive pathogenetic and (or) symptomatic treatment. Due to the high cost of an annual course of treatment, exceeding hundreds of thousands of rubles, and sometimes tens of millions, patients and their relatives are not able to purchase vital medications at their own expense.

Lawsuits of patients against the executive authorities of the constituent entities of the Russian Federation, containing demands to provide, in accordance with the legislation of the Russian Federation, patients with orphan diseases who have this right, guaranteed by the Constitution of the Russian Federation with medical care (treatment) and drugs (even if they are satisfied by the court), are not allow you to avoid interruptions in treatment and its complete absence due to delays in financial support for the specified state obligation.

Previously supported by the Government of the Russian Federation and the Federation Council of the Federal Assembly of the Russian Federation, the decision to transfer financial support for the treatment of a number of orphan diseases, primarily mucopolysaccharidoses in children, to the federal level (at the expense of the federal budget) was not taken into account in the draft federal law “On the federal budget for 2018 and for the planning period 2019 and 2020.”

The proposed co-financing of expenditures from the budgets of subsidized subjects of the Russian Federation (in whose territories only a part of the patients in need live) for drug provision for an indefinite list of orphan diseases in the discussed volume (8 billion rubles now from 2019) proposed, instead of centralization, will absolutely not provide the required level of drug provision, but will lead to to the uneven distribution of budget funds due to the non-targeted nature of financing.

The total costs of drug provision for orphan diseases previously proposed for centralization (mucopolysaccharidoses types I, II and VI, atypical hemolytic-uremic syndrome, paroxysmal nocturnal hemoglobinuria and juvenile rheumatoid juvenile arthritis) significantly exceed that proposed by the Government of the Russian Federation in the draft federal law “On the federal budget for 2018 and for the planning period 2019 and 2020” the volume of allocations (subsidies) for co-financing the expenses of the constituent entities of the Russian Federation (the expected amount of co-financing from the regions will not exceed 5% or 640 million rubles in total for 71 subsidized subjects).

Budgetary subsidies from the federal budget will not solve the problem of drug provision in regions with a surplus from a budgetary point of view, such as the Republic of Tatarstan, which evade execution of court decisions obliging them to provide citizens with orphan diseases with drugs.

A significant part of the constituent entities of the Russian Federation, taking into account the public support of the Government of the Russian Federation and the Federation Council of the Federal Assembly of the Russian Federation for the issue of centralization of a number of orphan diseases, in anticipation of the transfer of this obligation to the federal level from 2017, does not take into account the continuing need to implement the powers of the constituent entities of the Russian Federation in budget planning on drug supply for these diseases.

2. The round table participants discussed the criteria for expanding the program of 24 nosologies and the actual expansion of the program.

It was noted, in particular, that over the 5 years of implementation of the program on orphan diseases, called “24 nosologies,” there was no actual expansion. The criteria for expanding this program are also not normatively approved. Accordingly, not a single additional rare disease was included in the “7 nosologies” and “24 nosologies” programs.

The draft expansion criteria prepared by the medical community was sent for approval to the constituent entities of the Russian Federation.

However, one cannot expect from regions that, in conditions of budget deficits, are struggling to fulfill their obligations to provide medicines to patients with orphan diseases already included in the program of 24 nosologies, a positive decision that would aggravate their already difficult financial situation.

3. In addition to the lack of criteria for expanding the “24 nosologies” program, an accounting system has not been developed, and the procedure for providing medical care to rare patients who are not included in any state program has not been determined, for example, patients with Rett syndrome and other orphan diseases that are included in the list rare diseases.

4. In a number of constituent entities of the Russian Federation, due to the lack of current regulations on the access of patients with rare diseases to high-cost drug therapy, regional medical commissions are held, which cancel councils of expert doctors from federal clinics with experience in diagnosing and treating “rare” patients. Currently, the medical commission at the patient’s place of residence actually has much more power in deciding on the need for treatment or refusal to treat a patient with an orphan pathology than employees of federal clinics who have knowledge and experience in the field of diagnosis, treatment, and monitoring the effectiveness of therapy.

5. Patients with orphan diseases, effective drugs for the treatment of which have been developed but not registered in the prescribed manner in the Russian Federation, are ignored. A legal framework has not been developed to regulate the procurement and distribution of drugs unregistered in the Russian Federation, despite the fact that such drugs are necessary for patients for health reasons. At the same time, many countries have developed and effectively use programs for pre-registration access of medicines to their markets.

6. The legislation of the Russian Federation, which regulates the provision of medical care to patients with rare diseases, does not define the source of financing for genetic diagnosis of orphan diseases, which is currently carried out at the expense of citizens’ personal funds or sponsorship.

7. The problem with the availability of reagents for various tests that make it possible to diagnose rare diseases, both in federal centers and in large regional specialized laboratories, is of serious concern.

8. Despite the significant development of the gene industry, in most cases doctors do not have a clear understanding of in which cases it is advisable to prescribe expensive genetic diagnostics.

9. One of the problems that was discussed by the participants of the event is the lack of a set of measures for the prevention of hereditary diseases in the healthcare system of the Russian Federation.

At the state level, initiatives to determine the status of a carrier of an orphan disease are not being implemented.

It is necessary to develop and implement preventive measures to avoid the transmission of genetic material leading to the birth of sick offspring, and if a sick child is born, then to subsequent children in the family.

10. Many orphan diseases (especially those that are life-threatening and (or) leading to a shortening of life) require multidisciplinary support. Providing medical care to such patients without taking into account the characteristics of the disease can have fatal consequences.

In this area, there are practically no modern clinical recommendations that would allow doctors, even those who do not have full knowledge of a specific rare disease, to manage a patient and provide him with the necessary assistance.

11. A diagnosis made at an early stage of development of an orphan disease (in a timely manner) and early rehabilitation are guaranteed to significantly improve the quality of life of a patient with a rare disease, reduce the degree of disabling consequences in the future and increase life expectancy.

However, the situation with early diagnosis and rehabilitation continues to remain unresolved.

Late diagnosis is catastrophic in rare diseases with acute clinical symptoms. In particular, a disease such as acute intermittent porphyria is manifested by periodic attacks - acute conditions requiring emergency, immediate help. If there is no action, as well as with inadequate treatment, within three weeks from the onset of the attack, the patient (women are affected in 95% of cases) is doomed to severe disability or sudden death. The pathogenetic drug must be administered on the first or second day from the day the attack began. The existing drug supply scheme for patients with porphyria (the “24 nosologies” program, according to which it takes two months to register a patient and purchase the drug) is ineffective. Considering the need to comply with current regulatory procedural conditions, including established deadlines, the administration of the drug becomes irrelevant - the patient may die during this time.

The problem can only be solved by emergency administration of the drug and early diagnosis. Moreover, the diagnosis is quite simple; it can be significantly improved by making minor additions to the clinical recommendations for surgeons.

12. Mass screening of newborns in Russia for five hereditary diseases does not meet the requirements set by the world community for a neonatal screening program.

Advances in the development of laboratory diagnostic technologies and the active introduction of advances in genetics and molecular biology into medical practice make it possible to revise the list of nosologies included in the national neonatal screening program by replacing the disease or including new nosologies.

In particular, it is necessary to consider the possibility of including genetic testing for severe combined immune deficiency in the newborn screening program in Russia. Federal research centers are developing methods for mass perinatal (in the first hours of life) screening of all newborns for the presence of primary immunodeficiency conditions using the method for determining TREC and KREC, which allows identifying about 70% of primary

immunodeficiency conditions before the onset of life-threatening complications and begin specific treatment.

13) Extremely negative and even dangerous for people suffering from the rare disease “cystic fibrosis”, according to the round table participants, is the practice of implementing the requirements of the Federal Law of April 5, 2013 No. 44-FZ “On the contract system in the field of procurement of goods, works, services to meet state and municipal needs”, according to which any medicines with the same active substance according to the INN (International Nonproprietary Name) are considered analogues.

Patients take a huge number of drugs daily and for life, and they receive intravenously administered antibiotics in doses several times higher than the maximum permissible according to the instructions. The quality and evidence of the safety and effectiveness of drugs has a vital context, which is not taken into account when conducting tenders for the procurement of drugs.

14. A serious problem for sick people is the length of time it takes to replace one drug with another in the case of individual purchases of drugs when the fact of intolerance to a particular drug is revealed. The drug, which is very necessary immediately, is provided to the patient in six months, and sometimes even over a longer period. At the same time, the health condition worsens, the progress achieved goes into an exacerbation, into a phase that is more difficult for the patient and more costly for the healthcare system.

15. In the Russian Federation, historically, when organizing the system of medical care for patients with orphan diseases, the emphasis was placed on inpatient services.

However, modern advances in the diagnosis and treatment of orphan diseases and the experience of foreign centers demonstrate the need for organizing high-quality outpatient care.

Inpatient treatment for patients with cystic fibrosis is a complex issue. Despite all its regular necessity, it is in the hospital that cross-infection with deadly bacteria between patients can occur.

It should be considered completely unacceptable to hospitalize newborns with cystic fibrosis identified through a neonatal screening program, whose diseases often do not have clinical manifestations, to confirm the diagnosis and select basic therapy. From the first days of life, such children can become chronically infected with severe gram-negative flora obtained in the hospital from seriously ill patients with the same disease. This is the reason why outpatient treatment and home care remain a priority for the successful monitoring and treatment of patients with cystic fibrosis.

16. Nutritional therapy is an expensive and important adjunct to the treatment of many rare diseases. The patient's body mass index directly affects the function of many vital systems and organs, and in some cases it is impossible for the patient to replace the required diet with another type of nutrition. In our country, therapeutic nutrition is not recognized as full-fledged help; obtaining it through the system of state benefits is almost impossible.

17. The main problem in organizing the full provision of orphan patients with the necessary drugs is their high cost and the resulting high cost of the entire treatment complex. The solution to this problem could be facilitated by the development of Russian drugs - analogues of existing pathogenetic treatment.

Russian pharmaceutical companies, in turn, are concerned about the instability of funding for rare diseases and the lack of a clearly functioning system in this area.

18. There are precedents everywhere with delays in treatment, delays in the purchase and issuance of the necessary drug.

Orphan diseases are progressive diseases; only early treatment can preserve a person’s relatively healthy status and allow him to live a full life. A delay in treatment often leads to irreversible disability of the patient with an additional burden on both the patient’s budget and the budget system of the Russian Federation.

19. The procedure for determining disability for a “rare” patient is quite complicated.

Features of the manifestation of rare diseases are not taken into account in the standardized classifications and criteria used in the implementation of medical and social examination of citizens by federal state institutions of medical and social examination, which are also used by bodies and organizations involved in studying the patient’s medical history and making decisions on establishing disability.

Based on the results of assessing the patient’s condition, a deeply ill person is recognized as healthy and without grounds for establishing disability. This is especially dangerous for diseases that are not included in any government program. Only the status of a disabled person allows such patients to receive minimal treatment and medication.

The current criteria for determining disability take into account, first of all, clinical symptoms, and not the presence of a chronic disease. In particular, patients with primary immunodeficiencies (PID) are faced with refusals to extend or establish disability if timely diagnosis and carefully selected therapy allow achieving a stable general condition of the patient. At the same time, canceling therapy for PID puts the health and life of patients at high risk, leading to loss of effectiveness of the therapy and complications of the disease.

20. The Russian Federation is one of 5 countries in the world that is developing biosimilar drugs for the treatment of rare diseases (in addition to the Russian Federation, these include Korea, China, Iran and the USA). Given the constant lack of resources for the diagnosis and treatment of rare diseases, in all developed countries there are government programs to support projects for the development of orphan drugs, both reference and biosimilar and generic. The support is both financial and regulatory.

This is due to the fact that the number of manufacturers ready to develop orphan drugs in the world is only a few, and the economic component of the production of orphan drugs is, as a rule, an extremely expensive project.

Currently, within the framework of the current rules of state regulation of maximum selling prices, a single reduction factor has been established (minus 20% of the price of the reference drug) for registering the price of Russian generic drugs, including in the segment of the most expensive drugs. As you know, most European countries use more significant reduction factors. For example, in France the minimum difference is 60% of the price of the reference medicinal product, in Hungary the first generic medicinal product is reduced by 40% of the price of the reference drug, in Poland by 25%. The use of excessively high reduction factors for generic drugs more expensive than 10 thousand rubles will lead to a decrease in the interest of manufacturers in the production of these drugs and the maintenance of a monopoly of reference drugs, and therefore will reduce the quality of care received by patients, increase budget costs for providing patients with orphan diseases and, as a result, a quantitative decrease in patients receiving therapy in a timely manner.

21. Registration of patients with a rare disease is currently carried out on the basis of registers within the framework of the “7 nosologies” program and the regional segment of the federal register of the “24” nosologies program. But in fact, these registers are just registers, that is, lists of patients that do not allow assessing the level and volume of medical care provided and the effectiveness of the therapy, including expensive ones. Consequently, these databases do not allow us to assess the effectiveness of expended public financial resources.

In addition, existing patient registries account for a relatively small proportion of patients with rare diseases. The problems and needs of a large part of patients with other rare diseases are not known to the state and, accordingly, are not taken into account. A significant part of the population of our country, including sick children, does not receive social assistance and government support.

Decree of the President of the Russian Federation of June 1, 2012 No. 761 “On the National Strategy for Action in the Interests of Children for 2012–2017” clearly indicates the need to create a federal register for children with rare diseases. The deadline for implementation of this Decree is the end of 2017. The creation of a sufficiently complete federal register will help to achieve an understanding of the needs of patients, assess the possibility and need to develop and make the necessary government management decisions.

As an example, it is advisable, according to the round table participants, to use the experience of maintaining a register of patients with cystic fibrosis, created in 2011 by the Russian Association for Patients with Cystic Fibrosis LLC and the Russian Respiratory Society. Link to the resource on the Internet information and telecommunications network: http://mukoviscidoz.org/mukovistsidoz-v-rossii.html, http://mukoviscidoz.org/.

22. The regulatory framework adopted in 2014 and aimed at ensuring accelerated registration of orphan drugs does not ensure the implementation of the objectives that were the basis for its development.

Moreover, since 2016, the inspection procedure for production sites has become mandatory when registering all medicines. The existing barrier to the entry of medicines into Russia is threatening for patients with pathology, for whom the developed therapy is the only salvation of life and health.

Following the discussion, the round table participants noted:

1) despite many decisions being made, the situation with rare diseases in the Russian Federation remains unsatisfactory. It can only be changed through joint efforts both from the federal and regional legislative and executive authorities, as well as from the scientific and medical community, and public patient organizations;

2) the need to maintain currently implemented and introduce new measures aimed at developing a system of care for patients with rare diseases.

Based on the above, the Public Chamber of the Russian Federation recommends:

State Duma of the Federal Assembly of the Russian Federation together with the Federation Council of the Federal Assembly of the Russian Federation and the Government of the Russian Federation

Due to the large number of incoming appeals from constituent entities of the Russian Federation, the growing number of unfulfilled judicial

decisions on drug provision in the regions, consider the possibility of:

1. When preparing the draft federal law No. 274618–7 “On the federal budget for 2018 and for the planning period of 2019 and 2020” for consideration by the State Duma in the second reading, ensuring the regulatory consolidation of the centralization of drug provision for a group of patients with rare diseases requiring high-cost drug therapy , or the development and adoption of a federal state program for rare diseases.

2. Establishing liability for non-fulfillment (untimely fulfillment) of the obligation to provide medicines to patients with rare diseases requiring expensive long-term, often lifelong, drug treatment at the federal level (currently this obligation is assigned to the constituent entities of the Russian Federation and the authorities bear responsibility for its non-fulfillment state authorities of the constituent entities of the Russian Federation).

This will ensure rational procurement, efficient distribution of medicines among patients and, as a result, save budgetary funds, as well as reduce the financial burden on the budgets of the constituent entities of the Russian Federation and direct the released funds to provide medicines for other diseases.

At the same time, the currently valid format of the “24 nosologies” program can be preserved for the following diseases:

– with a relatively small number of patients who do not require significant financial resources;

– for the treatment of which new drugs have been developed and registered;

– for which the purchase of drugs is necessary on an emergency basis;

– requiring a large number of relatively inexpensive drugs and (or) medical products, consumables.

3. Establishing a legislative framework obliging authorized executive authorities at the level of subordinate rulemaking:

3.1. Develop and approve regulations on the organization of outpatient care by local specialists working with orphan diseases (pediatricians, therapists, geneticists, hematologists, gastroenterologists, pulmonologists, etc.);

3.2. Include in the list of medical specialties “pediatrician, general practitioner, specialist in rare diseases (optionally, cystic fibrologist)” with the provision of appropriate professional training;

Also, according to the round table participants, for each disease or group it is necessary to ensure discussion of the following requirements (standards): composition of the team of doctors; time for a patient with an orphan disease to be seen by specialists (at least 1 hour); increase in admission costs; calculating the number of specialists for a certain number of patients based on the characteristics of the pathology; enshrined in orders or clinical recommendations);

3.3. Develop a telemedicine system to provide advisory assistance to patients from the regions (regional centers) by specialists from federal centers and payment within the framework of compulsory medical insurance.

3.4. Take measures to prevent hereditary diseases at the stage of pregnancy planning.

3.5. Recognize nutritional therapy as a vital component of pathogenetic therapy for the treatment of patients with a number of rare diseases.

3.6. Develop and adopt a State Plan for Rare Diseases (taking into account the experience of adopting state plans for rare pathologies in other countries) and create a national Russian plan for orphan diseases.

Such a plan, according to the event participants, should regulate the provision of care to patients with rare diseases in order to ensure the development of domestic biotechnologies, including the creation of domestic drugs for the treatment of rare diseases.

3.7. Develop and adopt regulations providing for the establishment of a single reduction factor (minus 10% of the price of the reference drug) for orphan drugs.

According to the round table participants, in the system of state price regulation it is advisable to introduce special legal regulation when regulating prices for orphan drugs.

4. Development, together with the Ministry of Health of the Russian Federation and adoption in the prescribed manner, of a draft federal law providing for a reduction in the size of the reduction coefficients for the first generic and biosimilar medicines.

In foreign practice, in order to stimulate early entry into the market, lower reduction coefficients have been established for the first generic and biosimilar drugs (5–10% lower than for subsequent drugs).

5. Amendments to the Federal Law of November 21, 2011 No. 323-FZ “On the fundamentals of protecting the health of citizens in the Russian Federation” (Chapter 3, Article 14, 15, 16, 17) in terms of:

5.1. Changes in the procurement scheme for medicines for orphan patients, or the formation of a separate legislative framework for rare diseases, which will include a scheme for the purchase of effective proven medicines, as well as regulate the minimum terms for the purchase of drugs by trade name in case of recorded individual intolerance to drugs.

5.2. Regulation of the provision of medical care at home or in a hospital (home hospital and hospital in a medical organization), in particular:

– development and consolidation in the legislation of the Russian Federation of a scheme of assistance to patients undergoing home treatment;

– development of general provisions on the organization of day hospitals and hospitals at home for patients with orphan diseases, as well as the widespread use of existing ones.

6. Amendments to the Federal Law of November 29, 2010 No. 326-FZ “On Compulsory Medical Insurance in the Russian Federation” regarding the revision of the compulsory medical insurance tariff structure for the outpatient management of orphan patients, in order to stop the practice of unjustified hospitalization of patients associated with the risk of cross-infection (for example, patients with cystic fibrosis).

7. Amendments to the legislation of the Russian Federation in terms of eliminating restrictions on the use of medical devices that do not have state registration for clinical laboratory diagnosis of orphan diseases, subject to the establishment of a system of special requirements for the relevant laboratories.

8. Amendments to the legislation of the Russian Federation providing for a reduction in the number of inspections of the manufacturer’s production sites when registering an orphan drug.

7. Establishment in the legislation of the Russian Federation of requirements for mandatory clinical trials to confirm the effectiveness of a generic drug in clinical practice for orphan diseases.

8. Amendments to the legislation of the Russian Federation providing for a reduction in the size of reduction coefficients for

generic drugs in the segment of the most expensive drugs.

In order to maintain the pace of providing patients with orphan diseases with domestic drugs and reduce the cost of purchasing expensive drugs by increasing competition in bidding, it is proposed to introduce a maximum reduction factor for generic drugs at 40%.

Ministry of Health of the Russian Federation

Consider the possibility:

1. Taking into account the budget planning currently being carried out in the constituent entities of the Russian Federation for 2018 and the planning period of 2019 and 2020 (development, approval and adoption in the prescribed manner of a normative legal act on the budget of the constituent entity of the Russian Federation), bringing to the attention of the constituent entities of the Russian Federation information on the continuing need for continuous drug provision for life-threatening conditions of patients with rare diseases as one of the key social obligations of the constituent entities of the Russian Federation.

2. Taking into account the extremely limited capabilities of the majority of constituent entities of the Russian Federation to implement their powers for drug provision of orphan diseases due to budget deficits, referrals to the constituent entities of the Russian Federation for information on the volume of planned interbudgetary transfers for drug provision of orphan diseases in 2018.

3. Development of criteria for expanding the “24 nosologies” program and actual expansion of the program.

4. Development and submission in accordance with the established procedure to the Government of the Russian Federation of a draft resolution providing

approval of criteria for expanding the “24 nosologies” program and actual expansion of the program.

5. Development and submission in accordance with the established procedure to the Government of the Russian Federation of a draft federal law providing for the presentation in a new version of Part 3 of Article 44 of the Federal Law of November 21, 2011 No. 323-FZ “On the fundamentals of protecting the health of citizens in the Russian Federation”, providing for the authority of the Government of the Russian Federation for approval of the List of life-threatening and chronic progressive rare (orphan) diseases leading to a reduction in the life expectancy of citizens or their disability, formed from the number of diseases specified in part 2 of this article, based on the criteria established by the regulatory legal act - the order of the Government of the Russian Federation "

6. Expansion of the neonatal and perinatal screening program based on the current capabilities of the genetic laboratory service, financial resources and modern advances in the field of diagnosis of rare diseases.

7. Development and submission in accordance with the established procedure to the Government of the Russian Federation of a draft federal law providing for amendments to Article 16 of the Federal Law of November 21, 2011 No. 323-FZ “On the fundamentals of protecting the health of citizens in the Russian Federation” regarding inclusion in territorial programs of state guarantees of free provision of medical care to citizens of laboratory genetic diagnostic tests for a legally defined number of life-threatening diseases or for population groups (list of 24 life-threatening diseases, the “7 nosologies” program, register of rare diseases), as well as prenatal diagnostics in families that already have one patient a child with an orphan disease in subsequent pregnancies.

8. Legislative consolidation of the status of the Center for Orphan Diseases (Reference Centers) for a number of federal clinics for relevant groups of rare diseases.

For relatively common diseases, such as cystic fibrosis, centers at all levels (federal, regional) with a clear road map, financial, logistical, personnel and organizational support (budget, equipment, staff, etc.) are needed.

9. Determination of the procedure for individual procurement of unregistered medicines in the Russian Federation.

Currently, the import procedure is clearly defined on the basis of individual permits from the Ministry of Health of the Russian Federation, but the procurement process is significantly complicated. Patients receiving drug therapy not registered in the Russian Federation is most often carried out on the basis of court decisions.

10. Resolving the issue of using offlabel drugs in connection with age restrictions for indications not registered in the drug instructions or in the absence of clinical studies in the Russian Federation, as well as permission after a consultation of a federal institution (with the permission of the local ethical committee of a medical organization, with signed informed consent parents (guardian) and a child over 14 years of age and establishing the safety and tolerability of the drug in a specialized hospital) using the drug in the future with good tolerability in an outpatient setting.

It is the completeness of these documents, taking into account positive international experience in the management of “rare” patients that will improve the situation of “rare” people in the Russian Federation. Clinical

12. Addition of clinical guidelines for abdominal surgeons in order to improve the diagnosis of such a rare disease as acute intermittent porphyria (AIP) by requiring screening tests for AKI (for example, urinalysis with Ehrlich's reagent) in all cases of acute abdomen of unknown origin.

13. Development of a scheme for the emergency purchase of drugs for rare diseases with an acute clinical picture that require immediate treatment.

14. Development of a routing scheme for groups of rare diseases (determining: where to undergo diagnostics (in the constituent entities of the Russian Federation or federal districts), where to be examined at each stage of the disease to monitor the functional state of organs and systems) and the creation of a rehabilitation center at the federal level, as well as - anchor (regional) centers in the constituent entities of the Russian Federation.

15. Development of separate disability groups for people with orphan diseases and criteria for their establishment.

Due to their absence, several thousand children and adults with rare diseases are left without help and support. The subsequent development of individual rehabilitation programs for a patient with a rare disease, also, according to the event participants, should be carried out with an individual approach, taking into account the severity and characteristics of the disease and the need for lifelong use of maintenance therapy, and with a confirmed genetic diagnosis, disability should be established without waiting for clinical manifestations, possibly for life, since rare diseases are often incurable and progressive.