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.
Publications
On 28 October 2009, BAPES was officially given the status of data privacy administrator of rare diseases registries by the Commission for Protection of Data Privacy. After that, the collection of epidemiological data for the project “National registry of thalassaemia major patients in Bulgaria” started. Initial information shows that by January 2010 there are 208 thalassaemia major patients in Bulgaria, who are treated in seven centres – Sofia (95), Plovdiv (36), Varna (26), Burgas (14), Stara Zagora (19), Pleven (18). Currently, the data is been analyzed and the results will be published in March 2010. 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 thalassemia major. Moreover, this experience can be used as a model for creation of registries for other rare diseases.
On 28 October 2009, BAPES was officially given the status of data privacy administrator of rare diseases registries by the Commission for Protection of Data Privacy. After that, the collection of epidemiological data for the project “National registry of thalassaemia major patients in Bulgaria” started. Initial information shows that by January 2010 there are 208 thalassaemia major patients in Bulgaria, who are treated in seven centres – Sofia (95), Plovdiv (36), Varna (26), Burgas (14), Stara Zagora (19), Pleven (18). Currently, the data is been analyzed and the results will be published in March 2010. 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 thalassemia major. Moreover, this experience can be used as a model for creation of registries for other rare diseases.
А pilot epidemiological study of morbidity and incidence of chronic myeloid leukemia (CML) in Bulgaria has been completed. Information for 205 patients with this disease in Bulgaria has been collected. The final data will be published soon on our site and the results will help to launch a national registry for this disease. The pilot study was organized and conducted in close collaboration between ICRDOD, Scientific Society of Clinical and Transfusion Hematology and Medical Center “Raredis”.
National registry of patients with thalassemia major in Bulgaria is a project in the field of rare diseases which BAPES started in August 2008. Its aim is to establish an epidemiological tool to identify and follow up regularly the medical history of each patient. The registry will help doctors, scientists and health authorities to determine the incidence, prevalence, long-term clinical outcome and quality of life of Bulgarian patients with thalassemia major. They will also be able to compare overall management of thalassemia patients in Bulgaria with other countries. Moreover, this experience could be used as a model for starting registries for other rare diseases in the country. Initial data, based on consensus of the national expert group for thalassemia major show that currently there are 211 patients treated at 7 regional centres – Sofia (72), Plovdiv (54), Stara Zagora (37), Varna (23), Burgas (14), Pleven (11). This project is currently awaiting its final approval through the Commission for personal data collection and expected to start effectively in September 2009. For updated information, please click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Pseudohypoparathyroidism Ia with Evans syndrome (J Pediatr Hematol Oncol. 2008 Aug;30(8):628-30.). Authors are Pavone P Praticò AD Castellano-Chiodo D et al., from the Department of Paediatrics, University of Catania, Catania, Italy. Pseudohypoparathyroidism Ia (Albright hereditary osteodystrophy or Albright syndrome) is a rare disease, caused by the resistance to the action of the parathyroid hormone in target tissues, such as the bone, kidney, and intestine, with consequent hypocalcemia and hyperphosphatemia and increased levels of parathyroid hormone. The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation. We report on a child with a classic form of pseudohypoparathyroidism and associated Albright syndrome who developed Evans syndrome (ie, the cooccurrence of severe autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura). To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Therapeutic potential of icatibant (Expert Opin Pharmacother. 2008 Sep;9(13):2383-90). Authors are Cruden NL Newby DE from the University of Edinburgh, Centre for Cardiovascular Science, Edinburgh EH164SB, UK. There is now a substantial body of work implicating bradykinin, an endogenous peptide neurohormone, in the pathophysiology of a variety of inflammatory conditions in man. Icatibant (HOE-140, JE-049), a highly selective antagonist at the bradykinin B2 receptor, blocks the vasodilatation and increased vascular permeability associated with exogenous bradykinin administration both in experimental models and in vivo in man. Recent attention has focused on the therapeutic potential of icatibant in a number of human disease states. The most promising of these is hereditary angioedema, in which Phase III clinical trials have recently been completed and regulatory approval is currently being sought in Europe and the USA. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Drug discovery and development for Huntington’s disease – an orphan indication with high medical need (IDrugs. 2008 Sep;11(9):653-60.). Authors are Heitz F La Rosa S Gonzalez-Couto E et al., from the Siena Biotech SpA, 53100 Siena, Italy. Huntington’s disease (HD) is a rare neurodegenerative disorder that progressively destroys the mental capacity and motor control of patients. This loss of motor control results in abnormal body movements (chorea) – the hallmark of HD. Given that no disease-modifying therapy for HD exists and that available symptomatic treatments are not highly efficacious, the medical need for this ‘orphan’ disease remains high. The number of compounds that are undergoing discovery and development for the treatment of HD has increased significantly in recent years, spurred by legislative incentives for orphan drug development and by support from non-profit foundations. Thus, hope exists for patients with HD that efficacious medicines will become available. To access the full abstract of the article, click here.
A pilot epidemiological study collected data for all registered adult patients (over age of 18) diagnosed with CML in Bulgaria. Data were obtained from all 5 hematology centers in Bulgaria – Sofia (2 centers), Plovdiv, Varna, Pleven. Period of retrospective data collection – 18 months (01/01/2008 – 30/06/2009). For the period of the study, information was gathered about 227 patients, 22 of them died. At the end of the survey (30/06/2009) there are 205 patients with CML, who are treated in the National specialized hospital for hematology and all University Hospitals in Bulgaria.
Newly diagnosed patients for 2008 are 54.
The annual crude incidence and prevalence are respectively:
I = 0.88 / 100 000 / year
P = 2.96 / 100 000
Median survival of patients with CML is:
95.8 ±9.5 months
Approximately 80% of patients survived about 40 months.
This pilot study has been organized and conducted in close collaboration among National specialized hospital for hematology, University hematology clinics in Bulgaria, Information Center for Rare Disease and Orphan Drugs (ICRDOD), Bulgarian Scientific Society of Clinical and Transfusion Hematology and Medical Center “RareDis”.
The full text of the study will be available soon.