„Bulgarian Huntington Association” is a non-profit organization which has been established thanks to the collaboration between its founders, Mrs. Beatrice De Schepper – President of European Huntington Association and Ms. Juliana Bronze – Scientific Director of the European Huntington’s Disease Network. This is the first structure which is directly related to patients with Huntington’s disease in Bulgaria: http://huntington.bg/
A new review article explores the Bulgarian legislation on health technology assessment (HTA). It analyses how innovative therapies and orphan drugs in particular would respond to the regulators’ decision-making criteria for reimbursement through hypothetical scenario planning for orphan medicinal products. The paper concludes that the current reimbursement decision-making framework in Bulgaria seems to be generalized, not sufficiently transparent, and unable to precisely assess innovative health technologies. The article is published in the Folia Medica Journal of the Medical University of Plovdiv.
In execution of the Directive on cross-border healthcare, on 10 March 2014, the European Commission officially defined and adopted criteria for the reference networks for rare diseases as well as for the participating healthcare providers. Among the most important criteria are the provision of highly specialized healthcare services for rare diseases; multidisciplinary approach; development and implementation of clinical guidelines in regard to these rare and less common conditions, as well as bridging the gap between education and training. More information can be found in the Official Journal of the European Union.
Malnutrition is a serious problem for children with cystic fibrosis. It affects both quality and expectancy of life. CF patients and their parents are invited to participate in “Nutritional status and dietary intervention in children with cystic fibrosis” Project, which takes place in “St.Marina” UniversityHospital in Varna. The initiative is organized by the Department of “Pediatrics and Medical Genetics” and Department of “Hygiene” at the Medical University of Varna. The project has been consulted by experts from the European Society of cystic fibrosis. For more information about the project, please contact: Dr. Ruza Pancheva: 0899659873
Osteogenesis imperfecta is a congenital hereditary disease characterized by bone fragility. The clinical picture varies from very mild to lethal forms occurring in the perinatal period. Osteogenesis imperfecta – Bulgaria (www.oife.org) organises a meeting of patients with this disease. It will be held on 18 March 2014 at 14 pm at University Hospital “St. Marina” in Varna. All patients with this syndrome are invited to attend the event. At this meeting people with osteogenesis imperfecta would be able to learn about new developments in therapy and will have the opportunity to share the problems they face in everyday life.
If you are a patient and you want to attend the meeting, please contact Ms Zdravka Grancharska (0879174379, mama_3022@abv.bg).
The Institute for Rare Diseases and the Faculty of Public Health at the Medical University of Plovdiv are hosting a second HTA Training Workshop, which is going to take place on 22-23 February in Ramada Plovdiv Trimontium Hotel in Plovdiv. Workshop lecturers include Prof. York Zöllner (Hamburg University of Applied Sciences, Germany), Dr. Pedro Serrano Aguilar (Canary Islands Health Service, Spain) and Dr. Edmund Jessop (National Comissioning group, UK). The newly established Centre for Health Technology Assessment and Analyses (CAHTA), the first organization of its kind in Bulgaria, would be presented during this event.
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.
A new review article explores the current rationale of post-marketing access to orphan drugs, focusing on health technology assessment (HTA) and reimbursement decision-making considerations. An analytical framework is developed to address three overlaying issues: what is currently done and what needs to be done in the field of HTA of orphan drugs; which are the important variables relevant to the reimbursement decision-making about orphan drugs; and what is the relationships between theory and practice. Methods for economic evaluation, cost-effectiveness threshold, budget impact, uncertainty of evidence, criteria in reimbursement decision-making, and HTA research agenda are all explored and discussed from an orphan drug perspective. The study recommends that health authorities need to pursue a multidisciplinary analysis on a range of criteria, ensuring an explicit understanding of the trade-offs for decisions related to eligibility for reimbursement. Early constructive dialogue among orphan drug stakeholders and elaboration of orphan drug-tailored methodology tools could set the scene for ongoing accumulation of evidence, as well as for proper and timely assessment and appraisal. The article is published in Orphan Drugs: Research and Reviews Journal of Dovepress.
Institute for Rare Diseases wishes you a Merry Christmas and a Happy 2014 New Year!
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.