List of orphan diseases for the year of the Ministry of Health. Orphan diseases. Medicine as it should be. orphan diseases that seriously threaten human life

Orphan diseases were discussed at the 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 on the results of a round table on the topic: "Problems of diagnosis and treatment of patients with rare diseases in the Russian Federation"

The Civic Chamber of the Russian Federation (hereinafter referred to as the Civic Chamber) on the initiative of the Commission of the Civic Chamber for the protection of the health of citizens and the development of health care, together with the Commission of the Civic Chamber for social policy, labor relations, interaction with trade unions and support for veterans, the public organization of the disabled "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 most vulnerable populations that face low awareness of rare diseases from the medical community and delayed diagnosis. Worldwide, 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 of September 29, 2010 No. 771 “On the procedure for importing 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 the 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 of Free Provision of 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 refusing to citizens suffering from rare diseases in drug provision at the expense of the funds of the constituent entities of the Russian Federation”;

2) have received legislative consolidation of the definitions of "rare diseases", "orphan drugs"; the procedure regulating the simplified registration of medicines for the treatment of rare diseases and the system for registering patients with rare diseases in the Russian Federation were determined; some patients with rare diagnoses began to receive treatment, including expensive ones.

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

1. The situation with drug supply 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, which exceeds hundreds of thousands of rubles, and sometimes tens of millions, patients and their relatives are not able to purchase life-saving drugs at their own expense.

Lawsuits by patients against the executive authorities of the constituent entities of the Russian Federation, containing requirements to provide, in accordance with the legislation of the Russian Federation, patients with orphan diseases who have this right, medical care (treatment) and drugs guaranteed by the Constitution of the Russian Federation (even if they are satisfied by the court), do not allow avoiding interruptions in treatment and its complete absence due to delays in the financial provision of 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 the 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) is not taken into account in the draft federal law "On the federal budget for 2018 and for the planning period of 2019 and 2020.

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

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

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

A significant part of the constituent entities of the Russian Federation, given the public support by 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 to the federal level of this obligation from 2017, when budget planning does not take into account the continuing need to exercise the powers of the constituent entities of the Russian Federation for drug provision of these diseases.

2. The participants of the round table 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 the implementation of the program on orphan diseases, called "24 nosologies", the actual expansion has not occurred. The criteria for expanding this program are also not approved by law. 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, it is not reasonable to expect from the regions, which, in conditions of budget deficit, hardly fulfill their obligations to provide drugs 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, no accounting system has been developed, the procedure for providing medical care to rare patients who are not included in any state program has not been defined, for example, these are 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 being held, which cancel consultations of expert doctors from federal clinics with experience in diagnosing and treating "rare" patients. At present, the medical commission at the place of residence of the patient actually has much more authority in deciding on the need for treatment or refusal to treat a patient with 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 were left without attention, effective drugs for the treatment of which were developed, but not registered in the prescribed manner in the Russian Federation. The regulatory and legal framework regulating the purchase and distribution of drugs not registered in the Russian Federation has not been developed, despite the fact that such drugs are necessary for patients for health reasons. At the same time, many countries have developed and are effectively using programs for pre-registration admission 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 funding 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 conducting various tests that allow diagnosing rare diseases, both in federal centers and in large regional specialized laboratories, causes serious concern.

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

9. One of the problems 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, there are no initiatives to determine the status of a carrier of an orphan disease.

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

10. Many orphan diseases (especially life-threatening and/or life-shortening ones) 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 guidelines that would allow doctors, even without full knowledge of a particular rare disease, to guide the patient and provide him with the necessary assistance.

11. Diagnosis made at an early stage of development of an orphan disease (timely) 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 be 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 that require emergency, immediate assistance. With inaction, as well as with inadequate treatment, already three weeks after the onset of the attack, the patient (women are ill in 95% of cases) is doomed to profound disability or sudden death. The drug of pathogenetic action should 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 the registration of a patient in the register and the purchase of a drug takes two months) is inoperative. Given the need to comply with the current regulatory procedural conditions, including the established deadlines, the administration of the drug becomes irrelevant - the patient may die during this time.

The problem can be solved only 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 guidelines for surgeons.

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

Progress in the development of laboratory diagnostic technologies, the active introduction of the achievements of 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 by including new nosologies.

In particular, it is necessary to consider the possibility of including genetic testing for severe combined immunodeficiency in the newborn screening program in Russia. Federal scientific 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 TREC and KREC determination method, which makes it possible to identify about 70% of primary

immunodeficiency states before the onset of life-threatening complications and start specific treatment.

13) Extremely negative and even dangerous for people suffering from the rare disease "cystic fibrosis", is, according to the participants of the round table, 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 INN (International Nonproprietary Name) are considered analogues.

Patients daily and for life take a huge amount of drugs, and they receive intravenous antibiotics in doses many times higher than the maximum allowable according to the instructions. The quality and evidence of the safety and efficacy of drugs has a vital context that is not taken into account when conducting tendering activities for the procurement of drugs.

14. A serious problem for sick people is the duration of the replacement of one drug for another in the case of individual purchases of drugs when a fact of intolerance to a particular drug is revealed. The drug, which is very necessary immediately, the patient is provided in six months, and sometimes even in longer periods. At the same time, the state of health is deteriorating, the progress achieved goes into 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 has been placed on inpatient service.

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

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

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

16. Medical nutrition 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, medical nutrition is not recognized as a full-fledged assistance; it is almost impossible to obtain it through the system of state benefits.

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 of this problem could be facilitated by the development of Russian drugs - analogues of the existing pathogenetic treatment.

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

18. Everywhere there are precedents with the delay in treatment, the delay in the purchase and issuance of the necessary drug.

Orphan diseases are progressive diseases, only an early start of treatment can save a person a relatively healthy status, allow him to live a full life. Delay in treatment often leads to permanent disability of the patient with an additional burden on both the patient's budget and the budgetary system of the Russian Federation.

19. The procedure for establishing 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 the 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 the study of the patient's medical history and the decision to establish disability.

Based on the results of assessing the patient's condition, a deeply ill person is recognized as healthy and not having grounds for establishing disability. This is especially dangerous for diseases that are not included in any state program. Only the status of a disabled person allows such patients to receive minimal treatment and drug provision.

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 prolong or establish disability if timely diagnosis and carefully selected therapy can achieve a stable general condition of the patient. At the same time, the abolition of therapy for PID puts the health and life of patients at high risk, leads to a loss in the effectiveness of the therapy and complications of the disease.

20. The Russian Federation is one of the 5 countries in the world that are 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 reproduced. 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 a few, and the economic component of the production of orphan drugs, as a rule, is an extremely expensive project.

Currently, within the framework of the current rules of state regulation of maximum selling prices, a single reduction factor (minus 20% of the price of the reference drug) has been established for registering the price of Russian generic drugs, including in the segment of the most expensive drugs. As you know, in most European countries more significant reduction factors are applied. For example, in France the minimum difference is 60% of the price of the reference drug, in Hungary the first generic drug 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 preservation of the monopoly of reference drugs, and therefore 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" nosology program. But in fact, these registries are just registries, that is, lists of patients that do not allow assessing the level and volume of medical care provided and the effectiveness of ongoing, including expensive, therapy. Therefore, these databases do not allow assessing the effectiveness of spent 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 proportion 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 state 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 registry for children with rare diseases. The deadline for the implementation of this Decree is the end of 2017. The creation of a sufficiently complete federal registry will help to achieve an understanding of the needs of patients, assess the possibility and need for the development and adoption of the necessary state management decisions.

As an example, it is expedient, according to the participants of the round table, 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 and the Russian Respiratory Society. Link to the resource in the information and telecommunications network "Internet: http://mukoviscidoz.org/mukovistsidoz-v-rossii.html, http://mukoviscidoz.org/.

22. The regulatory framework adopted in 2014 and aimed at providing accelerated registration of orphan medicinal products does not meet the objectives that formed the basis for its development.

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

As a result of the discussion, the participants of the round table noted:

1) despite many decisions being made, the situation with rare diseases in the Russian Federation remains unsatisfactory. It can be changed only by joint efforts both on the part of federal and regional legislative and executive authorities, and on the part of the scientific and medical community, public organizations of patients;

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

Based on the foregoing, the Civic 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 applications from the constituent entities of the Russian Federation, the growing number of unexecuted court

decisions on drug supply in the regions to consider the possibility of:

1. When preparing 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 on rare diseases.

2. Establishing liability for non-fulfillment (untimely fulfillment) of the obligation to provide drugs to patients with rare diseases that require 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 state authorities of the constituent entities of the Russian Federation).

This will ensure the rationality of procurement, the efficiency of 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 current format of the 24 Nosologies program can be retained for 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 devices, consumables.

3. Establishment of legislative bases obliging the authorized executive authorities at the level of by-law rule-making:

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

3.2. Include in the list of medical specialties “pediatrician-, therapist-specialist in rare diseases (as an option – cystic fibrosis)” with the provision of appropriate professional training;

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

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

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

3.5. Recognize clinical nutrition 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 participants of the event, 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 participants of the round table, in the system of state price regulation it is expedient to introduce special legal regulation in the regulation of prices for orphan drugs.

4. Development jointly 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 reduction factors for the first reproduced and biosimilar drugs.

In foreign practice, in order to stimulate the earliest possible entry into the market for the first reproduced and biosimilar drugs, lower reduction coefficients are set (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, Articles 14, 15, 16, 17) in part:

5.1. Changes in the scheme for purchasing drugs 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 drugs, as well as regulate the minimum terms for the purchase of drugs by trade names in cases of 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 who are on 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 Federal Law No. 326-FZ dated November 29, 2010 “On Compulsory Health Insurance in the Russian Federation” in terms of revising the structure of CMI tariffs for outpatient management of orphan patients, in order to stop the practice of unreasonable hospitalizations of patients associated with the risk of cross-infection (for example, patients with cystic fibrosis).

7. Introducing amendments to the legislation of the Russian Federation in terms of excluding 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. Introducing amendments to the legislation of the Russian Federation to reduce the number of inspections of the manufacturer's production sites when registering an orphan medicinal product.

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

8. Introducing amendments to the legislation of the Russian Federation that provide 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 at the auction, it is proposed to introduce a maximum reduction factor for generic drugs at the level of 40%.

Ministry of Health of the Russian Federation

Consider:

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 regulatory legal act on the budget of a 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 support 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 possibilities of the majority of the constituent entities of the Russian Federation to exercise 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 program "24 nosologies" and the actual expansion of the program.

4. Development and submission in the prescribed manner to the Government of the Russian Federation of a draft resolution providing for

approval of the criteria for expanding the program "24 nosologies" and the 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 on the approval of the List of life-threatening and chronic progressive rare (orphan) diseases that lead to a reduction in the life expectancy of citizens or their disability, formed from among the diseases specified in Part 2 of this Article, based on the criteria established by a regulatory legal act - an 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 rare disease diagnostics.

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. guarantees of free provision of medical care to citizens with laboratory tests of genetic diagnostics for a legally defined number of life-threatening diseases or for population groups (a list of 24 life-threatening diseases, the 7 nosologies program, a register of rare diseases), as well as prenatal diagnostics in families that already have one patient a child with 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 the relevant groups of rare diseases.

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

9. Determining the procedure for individual purchases of unregistered medicinal products in the Russian Federation.

At present, 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 much more difficult. Patients receive drug therapy not registered in the Russian Federation most often on the basis of court decisions.

10. Decisions on the use of offlabel preparations due to age restrictions of indications not registered in the instructions for the medicinal product or in the absence of clinical trials in the Russian Federation, as well as permission after a consultation of a federal institution (with the permission of the local ethics committee of a medical organization, with a signed informed consent parents (guardian) and a child over the age of 14 and establishing the safety and tolerability of the drug in a specialized hospital) the use of the drug in the future with good tolerability on an outpatient basis.

It is the completeness of these documents, taking into account the 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 to improve the diagnosis of such a rare disease as acute intermittent porphyria (API) with the requirement to conduct 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 emergency procurement of drugs for rare diseases with an acute clinical picture requiring immediate treatment.

14. Development of a routing scheme for groups of rare diseases (determining: where to undergo diagnostics (by subjects 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 subjects 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, according to the participants of the event, should also 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, as rare diseases are often incurable and progressive.

"Orphan" or orphan diseases are a group of rare diseases that affect a small number of people, pathologies appear at birth or in childhood. In total, 7,000 such diseases have been described; in Russia, 214 nosologies are included in the list of orphan diseases. For research, development of methods for the treatment of these pathologies, state assistance is required. "Orphan" diseases have a negative impact on the quality of human life, can cause death.

What are orphan diseases

In medical science, there is no single definition of rare diseases. In some countries, orphan pathologies are distinguished 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 out of 1500 people, in Japan - 1 out of 2500. In European countries, only chronic, life-threatening pathologies are classified as rare diseases. In the Russian Federation, orphan pathologies are 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 can appear in adulthood. There are toxic, infectious, autoimmune "orphan" diseases. The following causes of the development of these diseases are distinguished:

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. The main reason for the appearance of pathology in fetal development is a 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 the 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 establishes that the responsibility for financing medical care for patients lies with the regions. The list is updated when a new disease occurs in the territory of the state. The government is developing standards for the care of patients with rare pathologies.

List of orphan diseases

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

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

What diseases are more common

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

cystic fibrosis

A hereditary disease that in severe form affects the external secretion glands is cystic fibrosis. Pathology occurs due to a mutation of a gene that regulates the transport of sodium and chloride ions through the mesh membrane of cells. In cystic fibrosis, all organs that secrete mucus are affected. There is an accumulation of thick, viscous contents, the withdrawal of which is difficult. Ventilation and blood supply to the lungs are disturbed, the appearance of malignant tumors is possible. Patients have stunted growth, enlarged liver, bloating, 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 a complication of DIC after acute infectious diseases, systemic connective tissue diseases. The disease provokes the intake of various medications, complications during pregnancy, heredity.

The diagnostic procedure is carried out using a general urinalysis, 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 mucosal candidiasis

Genetic rare disease of the skin, mucous membranes of the genital organs, membranes of the oral cavity - chronic mucocutaneous candidiasis. The causative agents are yeast-like fungi of the genus Candida Albicans. The disease can be determined on the basis of microscopic examination of the skin in a wet preparation with potassium hydroxide. Occurs in children under 18 years of age. Fungi can suppress the immune system, itchy rashes on the skin appear. The symptomatology of chronic mucous candidiasis is very diverse, it 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. Methods of treatment are developed at the state level, there is a constant development of new methods and drugs. For patients who need organs for transplantation, donor bases are being created. Each country has a list of pathologies, the treatment of which is funded by the state.

Orphan drugs

Orphan drugs are being developed to treat "orphan" diseases. The appointment of such status is a political issue, states provide support and stimulate the development of such medicines. To stimulate the activity of the orphan drug production process, some statistical requirements may be reduced. The state stimulates developers with special benefits, tax cuts, subsidizing development, and increasing the exclusivity period in the market.

When to See a Doctor

Many of us delay visits to the doctor, afraid of finding a terrible diagnosis. It should be remembered that it is better to start the treatment process at an early stage of the disease, this improves the result of therapeutic procedures, can significantly improve the patient's quality of life. If you notice symptoms of any abnormality in the functioning of the body, contact your healthcare professional immediately. Better the doctor will refute the diagnosis than the disease will reach an irreparable stage.

List of orphan diseases and drugs

Muscular dystrophies, atrophies are rare diseases. According to Russian legislation (Federal Law of November 21, 2011 No. 323-FZ “On the Basics of Protecting the Health of Citizens in the Russian Federation”) rare (orphan) diseases are diseases that are prevalent no more than 10 cases per 100,000 population.

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

Now Decree No. 403 provides for 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-Prauer)
Idiopathic thrombocytopenic purpura (Evans syndrome)
Defect in the complement system
Precocious puberty of central origin
Aromatic amino acid metabolism disorders (classic phenylketonuria, other types of hyperphenylalaninemia)
Tyrosinemia
Maple Syrup Disease
Other types of BCAA metabolic disorders (isovaleric acidemia, methylmalonic acidemia, propionic acidemia)
Fatty acid metabolism disorders
Homocystinuria
Glutaric aciduria
Galactosemia
Other sphingolipidoses: Fabry (Fabry-Anderson) disease, Niemann-Pick
Mucopolysaccharidosis type I
Mucopolysaccharidosis type II
Mucopolysaccharidosis type VI
Acute intermittent (hepatic) porphyria
Copper metabolic 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 you can see the official statistics of rare diseases in Russia.

What can be done now:

Full text of 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, 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 Shortening of Life Expectancy or Disability of Citizens, and its Regional Segment”)

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

Hypertension, gastritis, diabetes mellitus are quite common diseases. Our friends, relatives, we, after all, have them. But there are a number of very rare pathologies. New diseases that people have not encountered before are identified every year. So, orphan disease - what is it? How to deal with it?

Orphan disease: what is it?

Orphan diseases are very rare diseases. They are also called "orphans". Nevertheless, there are already about seven thousand such rare pathologies. Fortunately, the probability of finding one of them is very small. 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 sunk into oblivion, but in India the percentage of patients is much higher than in other countries.

Since it is commercially unprofitable for private individuals to invest in the search for vaccines and drugs 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 are 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 apparent only with time, when a person grows up.

Among rare diseases, one can find pathologies, the appearance of which is due to 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 smoothly flow into the chronic stage. Since it is impossible in some cases to stop pathological processes, the quality of life of a sick person gradually deteriorates, and eventually death occurs. The main task of all medical 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 one that occurs with a frequency of 10:100,000. The order on orphan diseases issued by the Russian government in 2012 clearly defined the list of rare diseases. There are 230 of them: fragile X-chromosome, cat's cry, Lejeune's syndrome, Williams' syndrome, etc.

The government decree also contains the 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 one of the five rare hereditary diseases to be detected in a newborn in time is carried out in all hospitals after the birth of the baby for free. It's called neonatal screening.

24 orphan diseases that seriously threaten human life

An official list of rare diseases has also been compiled, which most often lead to the imminent death or disability of patients in Russia.

The first line is occupied by such an orphan disease as hemolytic-uremic syndrome. HUS is toxicological in nature, leading to kidney failure and dehydration.

Also included in this list are Marchiafava-Micheli disease associated with the destruction of red blood cells, aplastic anemia, unspecified, Stuart-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 the accumulation of certain substances in the urine, causing it to smell like maple trees.

Fatty acid metabolism disorders, homocystinuria, glutaric aciduria, 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. It manifests itself against the background of diarrhea and upper respiratory tract infections.

There was 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 on a dominant or recessive basis.

Acquired hemolytic uremic syndrome is triggered by toxins and bacteria that can damage. The vast majority of cases (about 70%) are triggered by E. coli O157:H7 infection. You can get 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 Russia

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 an increased accumulation of viscous mucus in certain organs. There are several forms of cystic fibrosis: pulmonary-intestinal, broncho-pulmonary and intestinal.

With the defeat of the bronchi and lungs, from about two years old, the child begins to suffer from cough, accompanied by thick sputum. In the event that a bacterial infection joins the pathological process, pneumonia develops.

The intestinal form is accompanied by a 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, impaired stool, vomiting, etc.

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

Chronic mucosal candidiasis

An orphan disease such as chronic mucosal 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 are the symptoms of chronic mucosal candidiasis?

First, the skin, nails and mucous tissues are affected by the fungus.
Secondly, a person constantly feels weak and lethargic. Suffering from low blood pressure.
Thirdly, with the disease, the level of sugar in the blood decreases and convulsions appear.
Fourth, hair loss and skin hyperpigmentation may occur.

Chronic mucous candidiasis provokes the development of chronic as well as hepatitis. In children, the disease causes a slowdown in growth and development.

Diagnosis occurs through genetic testing.

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 the 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 when a healthy person became infected with fungi after a penetrating wound, as well as an insect bite.

Basically, zygomycosis affects people with a very weakened immune system:

patients with diabetes;
suffering from prolonged acidosis;
organ transplant recipients;
undergoing treatment with glucocorticoids;
infected with AIDS.

Zygomycosis gradually leads to necrosis of tissues and blood vessels, which get fungi. Therefore, the 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, include Lynch syndrome - colon cancer, which is inherited. In this case, a malignant tumor develops due to 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 under the age of 50 years.

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

The syndrome is diagnosed according to the Amsterdam criteria II.

thymoma

The list of rare orphan diseases includes thymoma. Under this name, all types of tumors of the thymus gland are hidden. As a rule, they are benign, but such a definition is very conditional. Without proper treatment, these tumors are able to metastasize, and after removal - to 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 jugular veins occurs, as well as shortness of breath and palpitations. 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, computed tomography.

The main method of treatment is surgical. 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

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

Classical cancer is formed due to epithelial cells, and sarcoma is not limited in this regard - it can affect bone tissue (osteosarcoma), cartilage (chondrosarcoma), muscle (myosarcoma), fat (liposarcoma), walls of blood and lymphatic vessels. The rest of the sarcoma is similar to a conventional malignant tumor, only now it grows at an accelerated pace.

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

exposure to carcinogens;
exposure to harmful chemicals;
radiation;
virus infection;
injury.

Early diagnosis of the disease is almost impossible. Sarcoma almost does not manifest itself, except for dull pain in the area of tumor localization. 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, include 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 in infancy and worsens by the age of two. The disease can be considered childhood, 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 in a baby, it is almost impossible to identify these symptoms.

Diagnosis requires MRI, ultrasound, CT.

Conservative methods are used for treatment, but they are expensive: for a five-week course of radiation therapy in clinics, they charge from 10 to 12 thousand euros (about 100 thousand rubles). Cryotherapy is widely used, as well as photocoagulation. The main advantage of these procedures is that they save 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 her is an increase in lymph nodes. First of all, pathological processes affect the abdominal and chest cavities. As a result, the patient feels pain in the chest, experiences shortness of breath, coughs 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 are associated with Hodgkin's disease.

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

The oncologist and hematologist are engaged in the treatment of lymphogranulomatosis. The patient undergoes an ultrasound and biopsy, CT or MRI procedure.

If you do not treat the disease, then death occurs within 10 years. The main methods of therapy are anticancer drugs and radiation procedures.

Thus, there are many rare diseases. Some of them are found in citizens of absolutely all countries, and some - 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.