Since 2011 Association Epidermolysis Bullosa Bulgaria has officially a new name – DEBRA Bulgaria, showing the affiliation to the European and worldwide family of similar patient groups – DEBRA Europe and DEBRA International. The new chairperson of the association is Mrs. Desislava Abadzhieva. For more information – please visit “Patient Associations” Section or DEBRA Bulgaria website.
BAPES 2010 activity report is already published in “Our Activities” Section. To read as a pdf file, please click here.
On 19 January 2011 the European Parliament adopted a EU law clarifying patients’ rights to access safe and good quality treatment across EU borders, and be reimbursed for it. Patients travelling to another EU country for medical care will enjoy equal treatment with the citizens of the country in which they are treated. In a statement the European Commissioner for Health and Consumer Policy John Dalli says that the new legislation will help patients who need specialised treatment, for example those who are seeking diagnosis or treatment for a rare disease. It supports the development of “European Reference Networks” bringing together, on a voluntary basis, specialised centres of expertise already recognised in Europe. Health experts across Europe will be able to share best practices on healthcare and provide standards of excellence.
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.
National alliance of people with rare diseases is organizing a training workshop “Psychological Methods – Way of Self-help to Improve Quality of Life of People with Rare Diseases and Their Families”. Lecturers will be the prominent psychotherapist Ms. Madeleine Algafari and the psychologist Elenko Angelov. Participants will have the opportunity to take valuable advices, to discover the possibilities of the positive thinking and how best to use it. The seminar will be held on 12-13 February 2011 in Hotel “Rusalka”, Plovdiv. To read the preliminary programme (in Bulgarian), please click here. For further information, please contact Ms. Yordanka Petkova, co-ordinator of NAPRD.
In the framework of the World Rare Diseases Day 2011 the European Commission has released today the results of an Eurobarometer Survey on “European Awareness of Rare Diseases”. This is an opinion survey trying to know the perception of Europeans about rare diseases and how they reacts in front of national and European policies in the field. You can download the complete report as well as the results by Member State, in English and in the national language(s), under the sites of DG Health and Consumers or Eurobarameter.
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.