The new issue of BAPES official newsletter is now published. The highlights include presentation of the Association of Medical Students of Plovdiv (ASM-Plovdiv) and their role in rare diseases activities in Bulgaria, as well as the preliminary programme of the Second National Conference for Rare Diseases. In “Rare diseases library” you can find an updated review on multiple sclerosis.
Publications
In 2010 a joint project of BAPES and the Bulgarian Society of Gastroenterology, Gastrointestinal Endoscopy and Abdominal Echography on National registry of Crohn disease patients has been officially started. In October 2010 a pilot study collected epidemiological information for 109 patients. These results were discussed on a meeting of the gastroenterology expert board in June 2011. The National registry itself will start later this year by collecting epidemiological data from all over Bulgaria. To see the results of the project so far, please check “Registries and Statistics” section of our website.
The new issue of BAPES official newsletter is now published. The highlights include summary of Rare Disease Day 2011 events in Bulgaria, as well as interview with patients and medical professionals on the recent changes in the provision of rare diseases medication. In “Rare diseases library” you can find an updated review on amyotrophic lateral sclerosis.
ICRDOD announces the publication of the updated and expanded version of its review on the access to orphan drugs in Bulgaria. The report contains 4 sections: orphan drug designation and marketing authorization; pricing, inclusion in the Positive drug list and reimbursement; mechanisms for accelerated access to innovative medicines; conclusions. There are 2 annexes, attached to the review: list of orphan drugs in EU and Bulgaria, which contains information about the trade name, ATC code, active substance, indication(s), marketing authorization holder and date of marketing authorization for each item (additionally, it is indicated whether the drug is present in the Positive drug list of Bulgaria and if it is reimbursed by public funds); list of references. You can read the review at the Registries & Statistics section.
Issue 2 / March 2011 (click here to read the PDF file, 705 KB)
The second issue of BAPES official newsletter is now published. The highlights include the epidemiological registries for rare diseases in Bulgaria, role of specialized rehabilitation in Prader-Willi syndrome management, as well as interview with Ms. Yordanka Petkova, coordinator of NAPRD for Plovdiv region.
BAPES 2010 activity report is already published in “Our Activities” Section. To read as a pdf file, please click here.
European school of hematology reports first success in gene therapy of hemoglobin disorders. Twenty years after the first transplantation of cord blood cells, a new milestone in biotherapies has been reached by the first gene therapy trial for β-thalassaemia, performed in Paris. The challenge was to treat adult thalassaemia major patients who did not have an HLA matched donor.
Тhe results are encouraging. They show that a 21 year old patient with severe β-thalassaemia, who was previously under a life long transfusion programme has been free of all transfusions 1 year after the transplantation of his corrected bone marrow cells. The therapeutic haemoglobin remains stably expressed (3.5 g/dL of blood) raising the Hb blood level to 9.5-10 g/dL. The patient feels cured and says that he has new strength, a new life and a full time job. Iron overload is slowly removed by oral chelation. It appears probable that the patient will be able to stop chelation in the near future. This preliminary result needs to be confirmed by inclusion in the trial of other patients with severe thalassaemia or sickle cell anaemia.
Many other genetic or acquired disorders could be future candidates for this type of gene therapy treatment. To read the full article, please click here.
The Bulgarian National chronic myeloid leukemia (CML) patients registry was started in November 2010 by concluding the first epidemiological study of CML patients. This project is implemented jointly with the Bulgarian Scientific Society of Clinical and Transfusion Hematology and Medical Center “RareDis”. After processing the information a total of 248 CML patients was registred. The proportion of men is 50.40% (125 patients), while that of women is 49.60% (123 patients). Standardized annual prevalence is 3.27 per 100 000 people. The average age of registered patients is 53.86 ± 15.33 years. At the time of the study, patients were treated and followed up in eight hospitals in the country, primarily in university hospitals: 2 centres in Sofia – National Hematology Hospital with 78 (31.50%) patients and “Alexandrovska” University Hospital with registered 29 (11.60%) patients, Plovdiv – 56 patients (22.60%), Varna – 48 patients (19.40%), Pleven – 27 patients (10.90%), Ruse – 5 patients (2.00%), Haskovo – 4 patients (1.60% ) and Vidin – 1 patient (0.60%). Patients from Ruse, Vidin and Haskovo receive medicinal therapy at the university clinics and are followed up by a hematologist in their home town. An update of the information on registered patients with CML, as well as registration of new cases will be held in 2011.
The second phase of the project “National registry of patients with thalassemia major in Bulgaria” was successfully completed in October 2010. The aim was to update the information on patients who were registered during the first phase of the project and to register newly diagnosed and not yet registered patients with thalassemia major. A total of 241 questionnaires (18 for primary epidemiological information about newly diagnosed patients and 223 for data update) was collected with the active assistance of medical specialists from blood transfusion centers and thalassemia patient association. After statistical processing of the submitted data, it was found that the number of men is 126 (52.28%) and 115 (47.72%) for women respectively. The average age of patients with thalassemia major is 19.5 ± 11.9 years. Their treatment is conducted in 12 hospitals in the country and chelation therapy takes place in the blood transfusion specialized centers (Sofia – three centers, Plovdiv – two centers, Varna, Stara Zagora, Pleven, Burgas, Ruse, Yambol and Silistra). These results were discussed and adopted as official for the country at a workshop of the Expert group on thalassemia, held in Varna in November. A subsequent update and collection of new epidemiological data in will be organized in March-April 2011.