At the initiative of the Association of Families with Fabry Disease, a debate was held on 13 June at the Press Centre of the Polish Press Agency, devoted to the situation of people with Fabry disease - an inborn genetic defect of human metabolism, which, if untreated, causes multi-organ changes in, among others, the digestive, nervous, urinary and circulatory systems. The idea of the meeting was to announce the results of the report "Situation of Fabry disease patients in Poland", compiled by the Health Economics Consulting and PEX PharmaSequence ("Situation of Fabry disease patients in Poland", Health Economics Consulting and PEX PharmaSequence, Stanisław Nowak, Rafał Zyśk, Warsaw, June 2018). The debate highlighted the need to ensure that patients have access to a modern treatment - enzyme replacement therapy, which slows down the progression of the disease and preserves fitness. Characteristics of Fabry disease Fabry disease is one of the ultra-rare metabolic genetic diseases. Affected individuals are born with an abnormal gene responsible for the production of alpha-galactosidase (alpha-GAL), an enzyme that is responsible for breaking down lipid substances in the human body. Its deficiency causes harmful metabolic products - globotriaosylceramide (GL-3 or Gb3) - to accumulate in the tissues of the nervous and circulatory systems, consequently poisoning the body and damaging internal organs, including the heart, kidneys and brain. The vast majority of patients also experience impaired body thermoregulation, which results in overheating of the body and the disease-specific limb pain of varying severity that accompanies patients most of the time. As the symptoms of the disease worsen, patients struggle with increasing kidney failure, chronic fatigue, strokes and impaired heart function. It is the cardiovascular incidents (including stroke, myocardial infarction and ventricular fibrillation) that are the most life-threatening for the patient and are the most common cause of mortality in Fabry disease. "The first symptoms of the disease can be seen in a child as young as a few years old, but they are often misinterpreted as rheumatic or cardiac complaints. For this reason, patients suffering from Fabry disease seek the help of various specialists: neurologists, rheumatologists, cardiologists or nephrologists before they are finally diagnosed. Sometimes the confirmation of the disease in another family member is an indication for further relatives to be tested and diagnosed." – indicates Dr Stanisława Bazan-Socha, specialist in internal medicine, 2nd Department of Internal Medicine, Jagiellonian University Collegium Medicum. "The only chance for patients is to include treatment with enzyme replacement therapy at the very first symptoms of Fabry disease. If this is not done, serious and irreversible damage to the organs can occur over time, or even complete organ failure, leading to death." – adds Stanisława Bazan-Socha, MD, PhD.. Situation of people with Fabry disease in Poland The criterion used in the European Union for defining a rare disease is an incidence of no more than 1 per 2 000 persons[1]. Taking into account Polish demographic data, it is estimated that approximately 2 million people suffer from rare diseases in our country[2]. Rare diseases are usually chronic, severe, progressive, life-threatening or disabling conditions, most of them genetic. Due to their specificity, rare diseases, apart from being an obvious burden on patients, are also a challenge for doctors, the scientific world as well as the health care system. In Poland, there are approx. 73 people with Fabry disease, but it is estimated that the number of patients is much higher. Unfortunately, the standard treatment of the disease remains preventive measures, limited to avoiding known risk factors, and symptomatic management, consisting only of reducing the severity of certain symptoms of the disease associated with, among other things, neuropathic pain. Treatment of Fabry disease The only effective causal treatment is enzyme replacement therapy, which consists of intravenous administration of a recombinant analogue of a natural enzyme that clinical trials have shown to reduce plasma concentrations of harmful lipid substances and deposits in the kidneys and other organs, and to have a beneficial effect on patients' neuropathic pain and sweating disorders. The treatment is currently reimbursed in 27 European Union countries, including Germany and the Czech Republic, among others. All applications submitted in Poland to include the therapy in reimbursement have not received a positive opinion from the decision-making bodies. "Although it took many years to get the right diagnosis, jAs people with Fabry disease, we are very lucky because we this condition jis one of the few among a list of nearly 7,000 to 8,000 known rare diseases that has a dedicated therapy to halt the progression of the disease and reduce life-threatening complications. Unfortunately, this is where our luck ends, as Poland is the only European Union country where this treatment is not reimbursed and patients do not have access to it." – explains Krzysztof Gołembiewska, President of the Association of Families with Fabry Disease. "There is a group among us patients who receive enzyme replacement therapy charitably from pharmaceutical companies. Thanks to my participation in clinical trials, my son and I were in this group. Unfortunately, my sick daughter is no longer... For me as a mother, there is no worse feeling than knowing the helplessness of the suffering that awaits her if she does not receive treatment." – confesses Krzysztof Gołembiewska. Currently, only those who qualify for so-called charity treatment programmes, which are run by drug manufacturers, have access to the therapy. However, these patients are unsure how long the charity funding for therapy will last. Many newly diagnosed patients - including children whose disease has not yet caused permanent changes - have no chance of accessing life-saving treatment. Report "The Situation of Fabry Disease Patients". As a result of the work of the Fabry Disease Families Association, a report has been produced, with the support of Shire Ltd. "The Situation of Fabry Disease Patients in Poland".prepared by Health Economics Consulting and PEX PharmaSequence. The aim of the study is to assess the difficulties in accessing treatment for patients with Fabry disease in the light of current clinical recommendations and the standard of treatment funded in other European Union countries. "Patients not only in the old EU countries, but also in Bulgaria, the Czech Republic and Lithuania have their treatment reimbursed. In Poland, on the other hand, patients have been struggling unsuccessfully for more than 16 years to gain access to a reimbursable therapy that slows and alleviates the progression of the disease and gives them a chance for a relatively normal and active life." – emphasises Rafał Zyśk, drug policy expert from Health Economics Consulting, co-author of the Report. "The decision on the implementation of new drug programmes is dominantly influenced by the ratio of the cost of treatment to its effect. In the case of Fabry disease, the value of this parameter will always be to the disadvantage of patients, unless we finally start to consider rare diseases as a separate category of conditions and apply separate weights to the evaluation of therapies when qualifying applications." – adds Rafał Zyśk. "There is also a reason why conditions such as Fabry disease are called 'orphan diseases'. The development and production of medicines for a small group of patients involves enormous expense, and in Poland access to treatment is still considered only from the point of view of the economic calculation." – adds Stanislaw Nowak, healthcare management expert from PEX PharmaSequence, co-author of the Report. "Of the more than 220 medicines for rare and ultra-rare diseases authorised in the European Union, only 26 are reimbursed in Poland. With all the understanding of the rules of the health system and the resulting limitations, it must not be forgotten that behind the numbers are people and their fundamental right to the protection of health and life." – concludes Stanislaw Nowak. According to experts, proper diagnosis is the first step to managing the disease. In the next step, the conditions for assessing the eligibility of applications, for reimbursement of therapies for rare diseases, should be redefined and the role of the economic indicator as determining the final recommendation should be limited. Patients with Fabry disease in Poland - debate with experts The presentation of the results of the report 'Situation of Fabry Disease Patients in Poland' was one of the reasons for organising a debate and expert discussion on the problems of people with Fabry disease and efforts to provide Polish patients with modern treatment standards, available and reimbursed in 27 European Union countries. The meeting was organised on 13 June at the Press Centre of the Polish Press Agency. The debate organised is part of the much-discussed urgent need to implement a 'National Plan for Rare Diseases', which will be a tool to ensure the sustainable implementation of health policies that address the needs of patients with rare diseases, including regulating the provision of appropriate pharmacotherapy. In addition, the results of the report 'Situation of Fabry disease patients in Poland' served as the basis for an exhibition dedicated to the condition and presenting the everyday life and experiences of people living with Fabry disease. The Association of Families with Fabry Disease plans to present the exhibition to MPs and senators, in the Polish Parliament. Report to download - "Situation of Fabry disease patients in Poland". [1] http://www.orpha.net/national/PL-PL/index/co-to-jest-choroba-rzadka/ [2] http://www.nadziejawgenach.pl/choroby_rzadkie/
