On 18 and 19 September 2009 a seminar for patients, entitled “The politics of health policy making at EU level and meaningful patient involvement through VALUE +” will be held at Hilton Hotel, Sofia. Organizers are the European Patients’ Forum and the Confederation “Protection of Health”. Conference moderator is Mr. Erick Savoye from the European Men’s Health Forum.
On the occasion of the First School Day (15 September) patient associations from the National Alliance of People with Rare Diseases will organise a procession with the motto “For a fair chance to our children”. The initiative aims to draw the attention of the society and the state to this group of people and to eliminate the discrimination on their medical treatment. The desire of the parents of children with rare diseases is to provide medication which will be equal to that which has been approved in the other EU countries. So children with rare diseases will have a chance to attend school as the other children. The initiative will begin at 16 o’clock on 15 September (Tuesday) from the subway to the “Dom Levski” on Rayko Daskalov street in Plovdiv. The procession will finish in front of the Municipality hall.
Prosensa, the Dutch based biopharmaceutical company focusing on RNA modulating therapeutics, announces the successful completion of a feasibility enquiry using the TREAT-NMD Global Database for DMD and the TREAT-NMD Care and Trial Sites Registry for the planning of the phase II/III study for its lead compound PRO-051. For more detailed information, please click here.
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.
The book of conference proceedings from the Fourth Eastern European Conference for Rare Diseases and Orphan Drugs is already published. You can look at it on the conference official website.
On 8/05/2008, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 542. The active ingredient is Ribonucleotide reductase R2 specific phosphorothioate oligonucleotide for treatment of acute myeloid leukaemia.
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.
On 8/05/2008, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 541. The active ingredient is [Nle4, D-Phe7″>-alpha-melanocyte stimulating hormone for treatment of erythropoietic protoporphyria.