The EU-funded BURQOL-RD Project is now officially finalised. The main aim of BURQOL-RD was to generate a model to quantify the socio-economic costs and Health Related Quality of Life (HRQOL), of both patients and caregivers, for to 10 rare diseases in different European countries.
The results from Bulgaria have pointed out the difficult access to specialised medical and social care for patients with rare diseases in the country. The average socio-economic burden per patient is significant – from 4 520.99 (BGN, 2011) in Prader-Willi syndrome up to 42 582.16 in Cystic Fibrosis. Short results can be found here. Full analysis of BURQOL-RD data per country and per disease would be published in a special issue of the European Journal of Health Economics. BURQOL-RD coordinators and ICRDOD wish to express gratitude to the Bulgarian patient organisations and medical professionals who have contributed to conduct the survey in Bulgaria.
The National registry of patients with myelofibrosis in Bulgaria is a joint project of BAPES and the Bulgarian Scientific Society of Clinical and Transfusional Hematology. Collection of primary epidemiological data for the project’s first implementation phase was completed in October 2013. Questionnaires were completed by medical professionals from the university hospitals’ hematology clinics in the country. Diagnoses of primary and secondary myelofibrosis, in accordance with the current international standards in clinical hematology, were the inclusion criteria for registering. The initial investigation registered 129 people. 114 (88.37%) of them were diagnosed with primary myelofibrosis, 15 (11.63%) with secondary myelofibrosis. Male were 62.79% (81 patients), female were 37.21% (48 patients). Non-standardised annual prevalence was 2.04 per 100 000 people. The mean age of the registered patients was 65.88 ± 9.67 SD years. Minimum registered age was 32 years, maximum age was 89 years. The most frequent age was 66 years.
National registry of patients with neuroendocrine tumors in Bulgaria is a joint project of BAPES and the Bulgarian Surgical Society. Primary epidemiological data for the project’s implementation was collected from February 2013 to June 2013. A standardised questionnaire was used to collect the minimum primary epidemiological information. Questionnaires were completed with the active participation and support of medical professionals from the university hospitals’ surgery departments in the country, Military Medicine Academy – Sofia, Tokuda Hospital Sofia, St Anna Hospital – Sofia, and the Oncology Hospital – Sofia. The initial investigation registered 127 NET diagnosed patients in Bulgaria. In 98 of them, NET was localised in GIT, and in 29 – in other locations. Male were 44.88% (57 persons), female were 55.12% (70). The median age of NET patients were 58.61 ± 15.59 years, varying from 14 to 87 years. The most common age of patients was 75 years. Further follow-up is needed to study NET incidence in Bulgaria.
We are glad to announce the Rare Diseases and Orphan Drugs Journal (RARE Journal), which is a new international open access, online, peer-reviewed journal published three times per year, with no publishing fees. RARE Journal is produced within the framework of RARE-Bestpractices project, which is funded by the EU Seventh Framework Programme. The mission of RARE Journal is to provide an advanced forum on important aspects of public health, health policy and clinical research in ways that will improve health care and outcomes for persons suffering from rare diseases, as well as globally increase rare diseases experience sharing. RARE Journal serves the international rare diseases community by publishing high-quality articles from epidemiology, public health, health economics, social sciences, ethics and law, with a special accent on rare diseases best practices guidelines, rare diseases research recommendations, and rare diseases epidemiological reports. RARE Journal first issue is due by December 2013 and the Journal has already announced a call for submissions. For further information, please visit RARE Journal official website.
Project Duration: 01 January 2013 – 31 December 2016
Overal Project Budget: € 2 293 654,86
EU Contribution: € 2 000 000
Website: RARE-Best practices
General Objectives:
- collection, evaluation and dissemination of existing best practices;
- an agreed methodology suitable to develop and update best practice guidelines;
- training activities targeted at key stakeholders to spread expertise and knowledge;
- a forum for exchanging information, sharing lessons learnt, and facilitating collaborations.
Project Coordinator: ISTITUTO SUPERIORE DI SANITA
The Rare Diseases Summer School for Health Authorities and Legislators is taking place for a third year in a row. This year’s event would be held from May 1-8 2013 in Turkey and is organized by BAPES, the Russian National Rare Diseases Patient Association “Genetics” and the Italian National Centre for Rare Diseases. School faculty includes renowned rare diseases experts from the UK, Russia, Italy, Spain and Bulgaria that will present important rare diseases topics as national plans, epidemiological registries and health technology assessment. Read more about the Rare Diseases Summer School in the upcoming issues of “Rare Diseases and Orphan Drugs” newsletter.
The last project update of the National registry of thalassemia patients in Bulgaria was completed in December 2012. The inclusion criteria were: (1) diagnosis of thalassemia major or (2) diagnosis of thalassemia intermedia with blood transfusions. 270 patients were officially registered (97.41% have signed an informed consent to be included and 2.59% have been anonymously included). 92.22% of the patients were thalassemia major diagnosed, the remaining 7.78% were diagnosed with thalassemia intermedia and were undergoing blood transfusions. Non-standardised prevalence of thalassemia in Bulgaria is calculated to be 3.66 / 100 000 population. The mean age of patients is 22.5 ± 12.86 years. Minimum reported age is 1.7 years, while maximum age is 64.9 years. The most common age is 18.4 years. Patients under 18 years were more – 61.05%, while the proportion of adult patients was 38.95%. The gender distribution was almost equal, with a slight predominance of men (52.22% vs. 47.78%). For further information, please click here.
The National Registry of Crohn Disease Patients has been updated in 2012. By November 2012 it already compiles epidemiological data for 299 Crohn disease patients. The new results have been summarised into a report, consisting of two parts – socio-demographic profile and Montréal classification of the disorder. The full text in Bulgarian is available on the National Crohn disease registry’s page on our website.
The Italian National Institute of Health will organise the EUROPLAN 2012-2015 inception workshop on national planning for rare diseases. The event will be held on 10-11 September 2012 in Rome, Italy. The main object of the workshop is to discuss among the participants the strengths and weaknesses in developing national plans and strategies on rare diseases. For more information, please, visit EUROPLAN website.
A data update of the National registry of patients with chronic myeloid leukemia (CML) was performed from December 2011 to May 2012. After processing the information a total of 328 CML patients was registered. There is an increase of 80 newly registered patients in comparison with the previous update. At the time of the study patients were treated and followed up in seven hospitals in the country, primarily in university hospitals.
You can find further information on the National CML registry in the epidemiological registries’ section of the website.