Програма за ретки болести во Македонија

Од службен весник на Р. Макеоднија, 2009 та година

PROGRAM FOR TREATMENT OF RARE DISEASES FOR 2009 IN R. MACEDONIA

Rare or orphan diseases are diseases who appear in 5 cases in 100 000 population. The small number of cases with rare diseases is a limited circumstance for the pharmaceutical industry to undertake further research for these diseases. Although from every rare disease for now there are only few patients, treatment is socially and ethically relevant. The small number of potential patients is limiting for the economical attraction for undertaking, researching and development of treatment for rare diseases. The production process should be on a high level of safety, quality and efficiency as for the other developed treatments for other diseases.

According to the European Regulative for rare medical products (Regulative (E3) no. 141/2000) rare medicine (orphan drug) is defined as treatment a) for the condition that is life threatening and exhausting, b) condition where not more that 5 / 1000 000 persons are affected, or as treatment for which small return is expected economically and in c) condition for which there is no other alternative way of treatment or for which the new treatment will contribute a lot to the patient’s condition (benefits for the patient compared to the situation before treatment).

Unlike for other diseases, health experts have limited knowledge and skills for diagnosing and treatment for rare diseases. The small incidence of these diseases allows only limited number of health experts, usually in specialized centers, to build expertise for diagnose, care and treatment for patients with rare diseases.

Building awareness and expertise for rare diseases on EU level. Controled use of treatment can be connected with creating standardized registers for patients on international level and network of centers for expertise. Registers will allow direct estimate for number and profile of patients for research and budget purposes. Other key benefit of these kind of registers is direct knowledge about where the patients live and how they can be included in research for new treatment, what will be the benefit for them and for the company. At the same time, forming registers for the rare diseases will make easier to generate more data for benefits of further treatment.

This data will also contribute in creating basis for future decisions for prices and reimbursements. All registries and registrations should be in compliance with regulative for data protection and other relevant national regulative. For higher level of benefit, efforts should be coordinated on national and international level.

Early diagnosis for these kind of diseases, which are mostly genetic, is the best guarantee for efficient treatment from the aspect of therapy ant expenses. Therapy is mostly not curative, but usually provides limited or extensive symptomatic support.

National program for treatment of rare diseases has a purpose to provide availability of new treatment for the citizens of R. Macedonia. Until now in Macedonia there are 20 patients with rare diseases. The treatment in most cases is impossible to be provided from the family without any help from the state.

Diagnosis of rare diseases is conducted by experts in the clinics, depending of the nature of the disease, but mostly it is done in the Clinic for Children Diseases. In most cases, tests are done in highly equipped health institutions out of R. Macedonia, so the diagnosis can be confirmed.

Patients with rare diseases are treated in the Clinic for Children Diseases, and adult patients in other clinics. Most rare diseases are result of lack of certain enzymes.

In R. Macedonia the following diseases appear: Morbus Gaucher, Hereditary angioedema, multiple myeloma, phenylketonuria, myelodysplastic syndrome, gastrointestinal stromal tumors, recidivans, acromegaly, gastroenteropancreatic neuroendoc rine tumors, mucopolysaccaharidosis, hereditary tyrosinemia, galacorosemia, and hereditary fructose intolerance.

In the future there may be new diagnosis of other rare diseases and more patients with already diagnosed rare diseases, and they all should be included in treatment according to the medical criteria.

Measures and activities for treatment of patients with diagnosed rare diseases will be undertaken by public health institutions, depending form the nature and character of the diseases and the treatment. Public health institutions are obligated to report regularly to the Ministry of Health about diagnosed patients with rare diseases who are already mentioned in this program and for new diagnosed rare diseases that should be included in the program and therapy and treatment should be provided for them accordingly.

FINANCE NEEDED FOR REALIZATION OF THE PROGRAM

For realization of the program for treatment for rare diseases in R. Macedonia for 2009, with therapy and drugs that are used in treatment for rare diseases in 2009, 27 800 000 Denars are needed in the budget.