A new section – Rare Diseases has been added to our site. You can find there useful information about rare diseases and web-database links. The version in Bulgarian language contains also rare diseases description, prepared by ICRDOD consultants. These documents include common synonyms, definition, etiology, clinical aspects, genetic counseling, medical treatment, specialized clinics and patient associations in Bulgaria.
On the occasion of the First School Day (15 September) patient associations from the National Alliance of People with Rare Diseases will organise a march under the motto “For a fair chance to our children”. The initiative aims to draw again the attention of the society and to provoke actions from the state in order to eliminate the discrimination on rare diseases patients’ medical treatment. The initiative will begin at 16 o’clock on 17 September 2010 (Friday) from the subway to the “Dom Levski” on Rayko Daskalov street in Plovdiv. Anyone may express its solidarity and support to the people with rare diseases by joining the rally.
The 2009 Report on Initiatives and Incentives in the Field of Rare Diseases, compiled by the Scientific Secretariat of the European Union Committee of Experts on Rare Diseases (EUCERD, formerly the European Commission’s Rare Diseases Task Force) is now ready. You can read it here. For further information, please visit EUCERD website.
ICRDOD has prepared a review of the access to medicines for rare diseases in Bulgaria. The report contains data for 60 orphan drugs, including the conditions which are treated with them and information about the presence of the medicine in the Positive drug list of Bulgaria and Regulation 34 of 25 November 2005, concerning the procedure of payment from the state budget for the medical treatment of Bulgarian citizens, outside the compulsory health insurance. You can read the review at the Registries & Statistics section.
A “FAQ on Clinical Trials” brochure has been added to our F.A.Q. section. The material has been prepared by the European Genetic Alliances Network (EGAN) and translated in Bulgarian by the ICRDOD team. To read it, please click here.
issue 1 / June 2010 (click here to read the PDF file, 150 KB)
BURLQOL-RD Project, funded by the EC, officially started on 20 April 2010. Its main outcome will be an integrated and harmonized set of instruments to assess and monitor socio-economic burden and health-related quality of life (HRQOL) of patients affected by rare diseases and their caregivers in EU. The Information Centre for Rare Diseases and Orphan Drugs through BAPES is an associated partner in this project. For further information – click here or visit the project official website.
A porphyrias patient association is in process of registration in Bulgaria. The national alliance of people with porphyrias will unite patients and their families. On the webpage of the association you can also find useful materials in Bulgarian about the porphyrias, which are courtesy of the Porphyrias Unit at the Gastroenterolgy Clinic of the “St. Ivan Rilski” University Hospital in Sofia.
Over 350 patients, medical professionals, representatives of pharmaceutical companies participated in the First National Conference for Rare Diseases and Orphan Drugs, part of EUROPLAN project, funded by the European Commission. Proposals, made during event, were summarized and adopted in a memorandum, which you can find here. Additional information from the official media partner of the conference – ZDRAVE.net – you can read here.
Updated information from the National thalassaemia major registry was obtained in March 2010. Results show that there are 223 thalassaemia major patients in Bulgaria, who are treated in eight centres – Sofia (90), Plovdiv (54), Varna (26), Stara Zagora (23), Burgas (15), Pleven (9), Gabrovo (2). The crude prevalence for Bulgaria is 2.93/100 000 persons. The average age of the registered patients is 19.5 years. By the end of the year a process of updating and registration of new patients will be conducted too. More information about the results of the register can be found here.
The project is implemented as a result of the common work and cooperation between BAPES, ICRDOD, Medical Centre „RareDis“, Bulgarian Scientific Society of Clinical and Transfusion Hematology and regional transfusion hematology centres in Bulgaria. Its main purpose is to create an epidemiological tool for identifying and tracking each patient. The registry will help doctors, researchers and health authorities to determine prevalence, morbidity, long-term outcomes and quality of life of the Bulgarian patients with thalassaemia major. Moreover, this experience can be used as a model for creation of registries for other rare diseases.