List of orphan diseases for the year. Orphan diseases: who should finance drug provision? Video: rare diseases

Content

“Orphan” or orphan diseases are a group of rare diseases that affect a small number of people; pathologies appear at birth or in childhood. A total of 7,000 such diseases have been described; in Russia, 214 nosologies are included in the list of orphan diseases. Research and development of treatment methods for these pathologies requires government assistance. “Orphan” diseases negatively affect a person’s quality of life and can cause death.

What are orphan diseases

IN medical science There is no uniform definition of rare diseases. In some countries, orphan pathologies are identified depending on the number of people suffering from this disease, in others - on the availability of treatment methods. In America, it is believed that rare diseases affect 1 in 1,500 people, in Japan – 1 in 2,500. In European countries, only chronic, life threatening pathology. IN Russian Federation Orphan pathologies are considered to be those that occur no more than 10 cases per 100,000 people.

Where do they come from?

Orphan diseases mainly arise due to genetic abnormalities and can be transmitted from parents. Pathologies are chronic. It is believed that most pathologies appear immediately after birth; rarely, symptoms may appear in adulthood. There are toxic, infectious, and autoimmune “orphan” diseases. Highlight following reasons development of these diseases:

heredity;
bad ecology;
reduced immunity;
high radiation;
viral infections in the mother during pregnancy, in children at an early age.

In children

Most patients with “orphan” diseases are born with pathologies. main reason the appearance of pathology in intrauterine development – genetic predisposition. If at least one of the parents is a carrier of the mutating gene, then there is a high probability that the child will be born unhealthy. The presence of the mother in a zone of increased radiation provokes the occurrence of orphan pathologies. Infectious diseases in a pregnant woman can be assessed as a provocateur of the development of mutations in a child.

Orphan diseases: order of the Ministry of Health

In January 2014, the Russian Ministry of Health updated the list of orphan pathologies, which included 214 nosologies. The order established that responsibility for financing medical care patients are assigned to the regions. The list is updated when cases of a new disease occur on the territory of the state. The government is developing standards for providing care to patients with rare pathologies.

List of orphan diseases

The list of orphan diseases found in Russia includes the following categories:

Mycoses: zygomycosis, mucormycosis, etc.
Neoplasms: thymoma, malignant soft tissue sarcoma, etc.
Diseases of the blood, hematopoietic organs and certain disorders involving immune mechanism: thalassemia, atypical hemolytic-uremic syndrome, etc.
Diseases endocrine system, eating disorders and metabolic disorders: hyperprolactinemia, cystic fibrosis, etc.
Mental disorders and behavioral disorders: Rett syndrome, etc.
Diseases nervous system: primary hypersomnia, hypertrophic neuropathy in children, etc.
Diseases of the eye and its adnexa: hereditary retinal dystrophies, atrophy optic nerve etc.
Diseases of the circulatory system: primary pulmonary hypertension, ventricular tachycardia etc.
Skin diseases and subcutaneous tissue: soft tissue sarcoma, Dühring's disease, etc.
Respiratory diseases: Wegener's granulomatosis, etc.
Digestive diseases: ulcerative colitis stomach, etc.
Diseases musculoskeletal system And connective tissue: Majid syndrome, aortic arch syndrome, etc.
Muscle diseases: progressive fibrodysplasia ossificans, etc.
Diseases genitourinary system: hereditary forms azoospermia, nephrotic syndrome etc.
Congenital anomalies of the anterior segment of the eye: aniridia, etc.
Congenital anomalies, deformations and chromosomal disorders: Hirschsprung's disease, progressive polycystic kidney disease, etc.

What diseases are more common?

On the territory of the Russian Federation, “orphan” diseases that arise due to genetic mutations are more common. The government has approved a list of 24 diseases, of which the treatment of the seven most expensive is financed from the Russian budget. Statistics say that the most common pathologies are: cystic fibrosis, hemolytic-uremic syndrome, chronic mucous candidiasis, Gaucher disease, pituitary dwarfism.

Cystic fibrosis

A hereditary disease that severely affects the exocrine glands is cystic fibrosis. The pathology occurs due to a mutation in a gene that regulates the transport of sodium and chlorine ions through the mesh membrane of cells. Cystic fibrosis affects all organs that produce mucus. There is an accumulation of thick, viscous contents, the removal of which is difficult. Ventilation and blood supply to the lungs are impaired, and possible malignant tumors. Patients experience growth retardation, liver enlargement, bloating, and dry cough.

Hemolytic-uremic syndrome

HUS is a rare pathology that develops in children under three years of age. The causes of hemolytic-uremic syndrome include complications of disseminated intravascular coagulation after acute infectious diseases, systemic connective tissue diseases. The disease provokes the intake various medications, complications during pregnancy, heredity.

The diagnostic procedure is carried out using general analysis urine, histomorphological examination. HUS occurs in three stages: prodromal, peak period, convalescence period, or the end of the patient’s life. Each stage has special manifestations, but there are also symptoms that appear throughout the disease:

hemolytic anemia;
thrombocytopenia;
acute renal failure.

Chronic mucous candidiasis

Genetic rare disease of the skin, genital mucosa, membranes oral cavity– chronic mucocutaneous candidiasis. The causative agents are yeast-like fungi of the genus Candida Albicans. The disease can be determined based on microscopic examination skin in wet mount with potassium hydroxide. Occurs in children under 18 years of age. Fungi can suppress the immune system, causing itchy skin rashes. Symptoms of chronic mucous candidiasis very diverse, manifests itself haphazardly.

Treatment

Most rare diseases are incurable, so the main goals of therapy are to increase the patient’s immunity and improve health. Treatment methods are developed at the state level, and new methods and drugs are constantly being developed. Donor bases are created for patients who need organs for transplantation. Each country has a list of pathologies whose treatment is funded by the state.

Orphan drugs

Orphan drugs are being developed to treat orphan diseases. The designation of such status is a political matter, states provide support and encourage development of this kind medical supplies. To stimulate the activity of the orphan drug manufacturing process, some statistical requirements may be reduced. The state stimulates developers with special benefits, tax reductions, subsidizing developments, and increasing the period of exclusivity on the market.

When to see a doctor

Many of us put off visiting the doctor for fear of finding out terrible diagnosis. It should be remembered that it is better to start the treatment process at early stage illness, it improves the result therapeutic procedures, can significantly improve the patient’s quality of life. If you notice symptoms of any abnormality in the functioning of the body, immediately contact medical worker. It is better for the doctor to refute the diagnosis than for the disease to reach an irreparable stage.

Video: rare diseases

Attention! The information presented in the article is for informational purposes only. The materials of the article do not call for self-treatment. Only qualified doctor can make a diagnosis and give treatment recommendations based on the individual characteristics of a particular patient.

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May 2, 2012
In accordance with Article 44 of the Federal Law “On the Fundamentals of Protecting the Health of Citizens in the Russian Federation,” the Government of the Russian Federation decides:
Approve the attached:
Rules 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;
a list of life-threatening and chronic progressive rare (orphan) diseases leading to a reduction in the life expectancy of citizens or their disability.
Chairman of the Government
Russian Federation V. Putin
Rules
maintaining the Federal Register of Persons Suffering from Life-Threatening and Chronic Progressive Rare (orphan) Diseases Leading to a Shortening of Life Expectancy of Citizens or Their Disability, and its Regional Segment

1. These Rules establish the procedure for maintaining the Federal Register of Persons Suffering from Life-threatening and Chronic Progressive Rare (Orphan) Diseases Leading to a Shortening of Life Expectancy of Citizens or Their Disability (hereinafter referred to as the Federal Register), and the regional segment of the Federal Register (hereinafter referred to as the Regional Segment).
2. The Federal Register is federal information system, including regional segments. Ministry of Health and social development The Russian Federation is the operator of this system and ensures its uninterrupted functioning.
3. The Federal Register is maintained electronically using an automated system by making a register entry, assigning a unique register entry number and indicating the date of its entry.
4. The Federal Register is maintained by the Ministry of Health and Social Development of the Russian Federation on the basis of information contained in the regional segment about persons 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, approved Decree of the Government of the Russian Federation dated April 26, 2012 No. 403 (hereinafter referred to as the list).
5. The regional segment is maintained by authorized bodies executive power subjects of the Russian Federation.
6. Regulation of relations related to the maintenance of the Federal Register and the regional segment is carried out in accordance with the legislation of the Russian Federation on information, information technology and information protection.
7. The Ministry of Health and Social Development of the Russian Federation and the authorized executive authorities of the constituent entities of the Russian Federation ensure the confidentiality of information contained in the Federal Register and the regional segment, storage and protection of such information in accordance with Federal law“About personal data.”
8. Information is placed in the Federal Register using an enhanced qualified electronic signature in accordance with the Federal Law “On Electronic Signatures”.
9. The Federal Register and the regional segment contain the following information about persons suffering from diseases included in the list:
a) insurance number of an individual personal account in the compulsory pension insurance system (if available);
b) last name, first name, patronymic, as well as the last name given at birth;
c) date of birth;
d) gender;
e) address of place of residence (indicating the code according to the All-Russian Classifier of Administrative-Territorial Entities);
f) series, number of passport (birth certificate) or identity card, date of issue of these documents;
g) series and number of the compulsory health insurance policy and the name of the medical insurance organization that issued it;
h) information about disability (if a disability group or the category “disabled child” is established);
i) diagnosis of the disease (condition), including its code according to the International Statistical Classification of Diseases and Related Health Problems;
j) the name of the medical organization in which the citizen was first diagnosed with the disease included in the list;
k) information on inclusion in the Federal Register of persons entitled to receive state social assistance in accordance with the Federal Law “On State Social Assistance”;
l) information on the prescription of medications for medical use for the treatment of a disease included in the list;
m) information on the release of medicinal products for medical use for the treatment of a disease included in the list;
o) information about the medical organization that issued a referral to include information about persons suffering from diseases included in the list in the Federal Register (direction to amend information about persons suffering from diseases included in the list, notice of exclusion specified information from the Federal Register) - name, main state registration number, code according to the All-Russian Classifier of Enterprises and Organizations;
o) the date of inclusion of information (amendments to information) about persons suffering from diseases included in the list in the Federal Register;
p) the date of exclusion of information about persons suffering from diseases included in the list from the Federal Register;
c) unique register entry number.
10. The regional segment is maintained by authorized executive authorities of the constituent entities of the Russian Federation and is formed on the basis of information about persons suffering from diseases included in the list. This information is submitted to the authorized executive body of the constituent entity of the Russian Federation in which these persons live, by medical organizations in which these persons are on medical care, including medical organizations under the jurisdiction of the Federal Medical-Biological Agency and the Federal Penitentiary Service.
11. If the information provided for in subparagraphs “a”, “g” and “l” of paragraph 9 of these Rules is not provided by the medical organization, the authorized executive body of the constituent entities of the Russian Federation independently requests the relevant information from state extra-budgetary funds.
12. Medical organizations carry out:
a) submission to the authorized executive authorities of the constituent entities of the Russian Federation of directions for inclusion of information about persons suffering from diseases included in the list in regional segments within 5 working days from the date of diagnosis of the disease included in the list, in the form and manner that approved by the Ministry of Health and Social Development of the Russian Federation;
b) submission to the authorized executive authorities of the constituent entities of the Russian Federation of directions for making changes to information about persons suffering from diseases included in the list contained in the regional segments, and notices on the exclusion of the specified information from the regional segments in the form and in the manner approved by the Ministry healthcare and social development of the Russian Federation;
c) registration of issued directions and notices provided for in subparagraphs “a” and “b” of this paragraph in a journal, the form of which is approved by the Ministry of Health and Social Development of the Russian Federation.
13. Information about persons for whom the diagnosis of a disease included in the list was established before the entry into force of Decree of the Government of the Russian Federation of April 26, 2012 No. 403, is subject to inclusion in the regional segment.
14. The information specified in subparagraphs “a” and “b” of paragraph 12 and paragraph 13 of these Rules is presented on paper and (or) electronically.
15. When making changes to the information specified in subparagraphs “a”, “b” and “d” - “o” of paragraph 9 of these Rules, the unique register entry number and the history of changes must be saved.
Information about persons suffering from diseases included in the list, or their changes, is stored for 3 years from the date of exclusion of information from the Federal Register.
16. In case of departure of persons suffering from diseases included in the list outside the territory of the subject of the Russian Federation in which they lived, due to a change of place of residence or for a period of more than 6 months, information about them is subject to exclusion from the regional segment of this subject of the Russian Federation and inclusion in the regional segment of the subject of the Russian Federation into whose territory the citizen entered, within no more than 10 days from the date of receipt of the relevant information.
In case of travel outside the territory of the Russian Federation for permanent place residence, as well as in the event of death of persons suffering from diseases included in the list, information about them is subject to exclusion from the regional segment.
17. The authorized executive authorities of the constituent entities of the Russian Federation, within 5 working days from the date of receipt from medical organizations of the information provided for in subparagraphs “a” and “b” of paragraph 12 and paragraph 13 of these Rules, make appropriate changes to the regional segment.
Scroll
life-threatening and chronic progressive rare (orphan) diseases leading to a reduction in the life expectancy of citizens or their disability
(approved by Decree of the Government of the Russian Federation dated April 26, 2012 No. 403)
Disease code*
1. Hemolytic-uremic syndrome D59.3
2. Paroxysmal nocturnal hemoglobinuria (Marchiafava-Micheli) D59.5
3. Aplastic anemia, unspecified D61.9
4. Hereditary deficiency of factors II (fibrinogen), VII (labile),
X (Stuart-Prower) D68.2
5. Idiopathic thrombocytopenic purpura (Evans syndrome) D69.3
6. Defect in the complement system D84.1
7. Premature puberty of central origin E22.8
8. Disorders of aromatic amino acid metabolism (classical phenylketonuria, other types of hyperphenylalaninemia) E70.0, E70.1
9. Tyrosinemia E70.2
10. Maple syrup disease E71.0
11. Other types of amino acid metabolism disorders
branched chain (isovaleric acidemia, methylmalonic acidemia, propionic acidemia) E71.1
12. Metabolic disorders fatty acids E71.3
13. Homocystinuria E72.1
14. Glutaric aciduria E72.3
15. Galactosemia E74.2
16. Other sphingolipidoses:
Fabry disease (Fabry-Anderson), Niemann-Pick E75.2
17. Mucopolysaccharidosis, type I E76.0
18. Mucopolysaccharidosis, type II E76.1
19. Mucopolysaccharidosis, type VI E76.2
20. Acute intermittent (hepatic) porphyria E80.2
21. Disorders of copper metabolism (Wilson's disease) E83.0
22. Incomplete osteogenesis Q78.0
23. Pulmonary (arterial) hypertension (idiopathic) (primary) I27.0
24. Juvenile arthritis with systemic onset M08.2

______________________________

* Reported according to the International Statistical Classification of Diseases and Related Health Problems, Revision X.
Document overview
A list of life-threatening and chronic progressive rare (orphan) diseases that lead to a reduction in the life expectancy of citizens or their disability, and the Rules for maintaining the Federal Register of Persons Suffering from them and its regional segment have been approved.
The list includes 24 diseases. These are hemolytic-uremic syndrome, metabolic disorders of aromatic amino acids, fatty acids, homocystinuria, galactosemia, acute intermittent (hepatic) porphyria, incomplete osteogenesis, etc. For each position, a code according to the International Statistical Classification of Diseases and Related Health Problems, X revision is given.
The Register is a federal information system that includes regional segments.
The operator of the system is the Ministry of Health and Social Development of Russia. He is responsible for its smooth functioning.
The register is maintained by the Ministry, the segments are maintained by authorized regional executive authorities. The latter use information from medical organizations, and in its absence, data obtained on the basis of requests to extra-budgetary state funds.
The register is maintained electronically using an automated system. The register entry is assigned a unique number and the date of its entry is indicated.
For each person, the full name, date of birth, address of residence, series, number of passport (birth certificate) or identity card, series and number are given compulsory medical insurance policy, diagnosis of the disease, information about the prescription and dispensing of medications, etc.

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:

Hemolytic-uremic syndrome
Paroxysmal nocturnal hemoglobinuria (Marchiafava-Micheli)
Aplastic anemia, unspecified
Hereditary deficiency of factors (fibrinogen), VII (labile), X (Stuart-Prower)
Idiopathic thrombocytopenic purpura (Evans syndrome)
Defect in the complement system
Precocious puberty of central origin
Disorders of aromatic amino acid metabolism (classical phenylketonuria, other types of hyperphenylalaninemia)
Tyrosinemia
Maple syrup disease
Other types of branched chain amino acid metabolic disorders (isovaleric acidemia, methylmalonic acidemia, propionic acidemia)
Fatty acid metabolism disorders
Homocystinuria
Glutaric aciduria
Galactosemia
Other sphingolipidoses: Fabry disease (Fabry-Anderson), Niemann-Pick
Mucopolysaccharidosis, type I
Mucopolysaccharidosis, type II
Mucopolysaccharidosis, type VI
Acute intermittent (hepatic) porphyria
Copper metabolism disorders (Wilson's disease)
Incomplete osteogenesis
Pulmonary (arterial) hypertension (idiopathic) (primary)
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 it can be seen official statistics rare diseases in Russia.

What you can do now:

Sign the petition to provide Translarna (Ataluren) to a boy suffering from Duchenne muscular dystrophy

Sign the petition to include Duchenne muscular dystrophy in the “7 nosologies” program

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”)

If the file is not displayed in the window embedded in the recording, or is too small, you can read the resolution at the link: https://goo.gl/BEqn5s.

October 31, 2019, Quality of regional and municipal governance On awarding the winners of the All-Russian competition “Best municipal practice» Order No. 2534-r dated October 26, 2019. The distribution of transfers between the budgets of the constituent entities of the Federation for bonuses for 23 municipalities - winners of the All-Russian competition “Best Municipal Practice” was approved. These municipalities achieved the best results in the areas of municipal economic policy and municipal financial management, housing and communal services and the urban environment.

October 30, 2019 , Housing and communal services Indices for changes in the amount of citizens' fees for public utilities for 2020 Order No. 2556-r dated October 29, 2019. The index for a subject of the Federation determines the maximum permissible increase in the total payment of citizens on average for the corresponding region, and serves as the basis for approval by the head of the subject of the Federation of the maximum indices for changes in the amount of payments made by citizens for utility services in municipalities.

October 29, 2019, Natural resource management. Subsoil use On holding an auction for the right to use the Bukharinsky subsoil plot of federal significance Order No. 2478-r dated October 21, 2019. The area for geological study of subsoil, exploration and production of hydrocarbons has an area of 2447.4 square meters. km.

October 29, 2019, Shipbuilding and marine technology The Development Strategy of the shipbuilding industry until 2035 has been approved Order No. 2553-r dated October 28, 2019. The goal of the Strategy is to create competitive production in the shipbuilding industry, increase the level of management efficiency of shipbuilding and ship repair organizations, and resolve issues of import substitution in the construction, maintenance and repair of ships, vessels and marine equipment.

October 26, 2019, The Federal Statistical Work Plan has been supplemented with information on the dynamics of indicators of the national projects “Healthcare” and “Demography” Order No. 2498-r dated October 23, 2019. The Federal Statistical Work Plan includes 70 indicators, including 27 indicators of federal projects included in the national project “Demography”, and 43 indicators of federal projects included in the national project “Healthcare”.

October 25, 2019, Humanitarian relations with foreign countries (except the CIS). Compatriots On awarding Russian-language foreign media with certificates of honor from the Government of Russia Order of October 24, 2019 No. 2518-r. In 2019, the newspaper “Azerbaijanskie Izvestia” (Republic of Azerbaijan), the publishing house “LTC Media Verlag” (Federal Republic of Germany), the magazine "Open City" (Republic of Latvia) and non-governmental organization "Association of Russian Culture" (Republic of Turkey).

October 20, 2019, Awarded the Government Prize “Soul of Russia” for 2019 Order No. 2430-r dated October 15, 2019. 15 awards were awarded in the categories “Folk Music”, “Folk Singing”, “Folk Master”, “Traditional” folk culture" and "Folk dance".

October 20, 2019, Theater. Music. art Awarded the Government Prize for the best theatrical production based on works of Russian classics Order No. 2431-r dated October 15, 2019. The prize winners were the Astrakhan Puppet Theater, the Irkutsk Regional Puppet Theater “Aistenok”, the Kirov State Theater for Young Spectators “Theater on Spasskaya”.

October 15, 2019, Circulation of medicines, medical devices and substances On approval of the list of vital and essential drugs for medical use for 2020 Order No. 2406-r dated October 12, 2019. The list of vital and essential drugs for medical use for 2020 has been updated 24 medicines, 2 new dosage forms for drugs already included in this list. List of medications to provide individual categories citizens was supplemented with 23 items of medicines. The list of expensive drugs has been supplemented with 12 items.

October 12, 2019, State policy in the field of scientific research and development Awarded the Russian Government Prize in the field of science and technology for young scientists for 2019 Order of October 7, 2019 No. 2323-r. 25 applicants became award winners in 2019. The prizes, in particular, were awarded for the development and implementation of methods and systems for intelligent robot control various types and appointments, integrated system ensuring sustainable life cycle buildings and structures, forevacuum plasma electronic sources for processing and modification of dielectric materials.

October 11, 2019 About the director of the federal state budgetary educational institution "International Children's Center "Artek"" Order No. 2356-r dated October 10, 2019

October 11, 2019 About the General Director of the Federal State Budgetary Institution of Culture "State Hermitage" Order of October 11, 2019 No. 2381-r

October 9, 2019, Organization of the healthcare system. Health insurance The principles of modernization of primary healthcare have been approved Resolution of October 9, 2019 No. 1304. Decisions made will help ensure accessibility and quality of primary health care and medical care provided in rural areas, workers' settlements, urban-type settlements and small towns with a population of up to 50 thousand people.

October 9, 2019, Postal service The composition of the board of directors has been determined joint stock company"Post office" Order of October 7, 2019 No. 2305-r. In accordance with the Federal Law “On the Peculiarities of the Reorganization of the Federal State unitary enterprise“Russian Post”, the fundamentals of the activities of the joint stock company “Russian Post” and on amendments to certain legislative acts of the Russian Federation” and the charter of JSC “Russian Post”, the board of directors is appointed based on a decision of the Government of Russia for a period of no more than five years.

October 7, 2019, Russia’s participation in multilateral agreements, international organizations and associations (except the CIS) The Government of the Russian Federation has decided to sign the UN Convention on Facilitation of Border Crossing Conditions for the International Carriage of Passengers and Baggage by Rail Order of September 30, 2019 No. 2265-r. The Convention, in particular, provides for the introduction of simplified procedures for conducting control operations on passenger trains, conducting border and customs controls on trains along new technology along the route, organizing the passage of passenger trains in non-stop mode and reducing the time for carrying out all types of control operations at border stations, reducing parking time by reducing the time for control operations, the use of modern information technologies when transporting passengers.

October 7, 2019, Migration policy The permissible share of foreign workers in certain types has been established economic activity for 2020 Resolution of September 30, 2019 No. 1271. In some areas of economic activity for 2020, the permissible share of foreign workers established for 2019 has been maintained. The decisions taken are needed to regulate the attraction of foreign labor to individual species economic activity, taking into account the regional characteristics of the labor market and the need to employ Russian citizens as a priority.

A procedure has been established for assessing the effectiveness of territories of rapid socio-economic development Resolution of September 23, 2019 No. 1240. A methodology for assessing the effectiveness and monitoring performance indicators of priority development areas has been approved, with the exception of priority development areas created in single-industry towns. The methodology defines the indicators that will be used for assessment and monitoring, as well as the criteria under which the ASEZ will be considered effective.

October 3, 2019, Territory development tools. Investment projects of regional importance A decision was made to create a special economic zone of industrial production type “Oryol” in the Oryol region Resolution of September 24, 2019 No. 1241. The creation of the Orel SEZ will contribute to the socio-economic development of the Oryol region, attracting investment, and creating new jobs.

September 27, 2019, Migration policy The procedure for issuing electronic visas for entry into Russia through checkpoints in St. Petersburg and Leningrad region Resolution of September 26, 2019 No. 1252, order of September 26, 2019 No. 2173-r. The specifics of issuing ordinary single-entry business, tourist and humanitarian visas in the form electronic documents and entry into Russia through checkpoints in St. Petersburg and the Leningrad region on the basis of such visas of citizens of foreign countries included in the corresponding list. Checkpoints have been identified state border, through which Foreign citizens will be able to enter Russia on the basis of electronic visas.

On March 20, the Public Chamber of the Russian Federation held a round table “Fabry disease in focus”, during which participants discussed the problems faced by patients with rare (orphan) diseases, as well as ways to finance the provision of medicines to such patients.

Opening the meeting, Deputy Chairman of the RF OP Commission for the Protection of Citizens' Health and Healthcare Development Valentina Tsyvova said that the Public Chamber of the Russian Federation receives requests related to the difficulty of obtaining medicines for patients with rare diseases in the regions.

Let us recall that on November 26, 2018, the Chairman of the Government of the Russian Federation Dmitry Medvedev signed a resolution according to which the Federal Law “On the Fundamentals of Protecting the Health of Citizens in the Russian Federation” expanded the list of life-threatening and chronic progressive rare (orphan) diseases leading to a reduction in life expectancy or disability, for the treatment of which drugs are centrally purchased at the expense of the federal budget.

Previously, such a list included seven diseases: hemophilia, cystic fibrosis, pituitary dwarfism, Gaucher disease, malignant neoplasms lymphoid, hematopoietic and related tissues, multiple sclerosis. Now, the powers to purchase drugs for the treatment of five more orphan diseases have been additionally transferred to the federal level: hemolytic-uremic syndrome, juvenile arthritis with systemic onset, mucopolysaccharidosis types I, II and VI. The federal law also establishes that the procedure for providing patients with one of these 12 diseases with medications and the procedure for maintaining the federal register of such patients are determined by the Government of Russia. These regulations came into force on January 1, 2019.

The event was initiated by the interregional charity public organization disabled people "Union of Patients and Patient Organizations for Rare Diseases" with the support of the Public Chamber of the Russian Federation. The initiators proposed organizing a joint meeting of experts and representatives of the patient community to discuss the possibility of including Fabry disease in the federal support program medicines patients with similar rare diseases. Currently, medicines are provided from the regional budget, and sometimes there is only enough for children.

Head of the Scientific and Clinical Department of Chemotherapy for Orphan Diseases of the National Medical University research center Hematology of the Ministry of Health of the Russian Federation Elena Lukina spoke about positive treatment experiences rare disease Gaucher using federal budget funds.

“Many orphan diseases, in particular Fabry disease, do not have drug coverage at the federal level, this moment this lies on the shoulders of the subjects of the Russian Federation. Sometimes even non-subsidized regions cannot afford full treatment of such complex adult patients, since there is only enough money for children. Our positive experience with the treatment of Gaucher disease through the federal center has shown that federalization of the provision of medicines to patients allows citizens to receive the drugs necessary for life,” Lukina said.

Another difficulty in resolving the issue of treating orphan diseases, according to Elena Lukina, is the ambiguity of the criteria for diagnosing the disease and the reliability of information for prescribing lifelong or long-term treatment. In particular, the expert gave an example where, as a result of five to six years of expensive treatment, a patient developed the same phenomena as patients who did not receive treatment.

Head of the Clinic of Nephrology, Internal and Occupational Diseases named after E.M. Tareeva Sergey Moiseev spoke about the work of the country's largest medical institution, which is part of clinical center First Moscow State medical university named after I.M. Sechenov. The clinic has more than 50 years of experience in treating rare diseases.

“We recently analyzed the number of patients with Fabry disease who receive treatment from us. About 60 families have passed through our clinic, which is a total of 160-170 people. Of these, about 40 people are now receiving therapy, but since among relatives there are women and small children who do not receive treatment due to the characteristics of their disease, we can say that only half of the patients who need treatment receive it,” noted Sergey Moissev.

He suggested using the clinic named after E.M. Tareev as a federal center capable of diagnosing Fabry disease and treating this rare disease.

Summing up the meeting, the participants reported that the issue of drug provision for patients with orphan diseases requires additional study expert level. It is proposed to introduce federal funding for the treatment of such diseases and provide federal medical centers the right to prescribe this treatment and observe its dynamics. The sectoral ministry is asked to designate authorized federal centers and specialists responsible for diagnosing how orphan diseases are treated.