Bioethics and Fundamental Patient’s Rights in Therapy and Molecular Diagnosis of Rare Diseases: Thalassemias

Rare diseases are human pathologies which are not frequent in the human population (1/2000). For this reason, these diseases should be considered “orphan” of the interest of big pharmaceutical industries, which are not prone to sustain research and clinical development. On the contrary, high interest of industry is concentrated on few classes of pathologies with very high number of patients, such as cardiovascular diseases, cancer and infectious diseases. Interventions for these disease is higher that 70% of the all R&D activity of the overall industries .This issue is relevant and might prevent development of cures for rare diseases; accordingly, several actions have been recently undertaken stimulating the research and drug development in this applied field. For instance EURORDIS, the European Organisation for Rare Diseases, launched the EURODIS Charter for Collaboration between Sponsors and Patient Organisations for Clinical Trials in Rare Diseases, outlining a number of principles to which sponsors may publicly state their acceptance. EURODIS will then support such sponsors in identifying European patient organisations to co-operate in clinical trials . In this context, patient organizations may faithfully collaborate with sponsors in all phases and on several aspects of clinical trials including the following: (a) adapting the design of the study to patients’ expectations facilitates their adhesion to the trial; (b) providing early information to potential participants ensures and speeds up their inclusion in the trial; (c) supporting patients during the study reduces number of drop-outs and incomplete files; (d) taking quality of life into consideration and discussing trial results with sponsors contribute to the assessment of clinical and day-to-day benefits of the treatment . The issue of rare diseases is very important also in consideration of the fact that frequently the clinical symptoms are in any case important and therapy is not curative. In most instances, large scale screening, prenatal diagnosis and abortion of affected fetuses are strategies which are preferred to large-scale funding of research focusing on development of novel therapeutic approaches