Characterization of high-quality Rare Disease Registries by using a data mining approach

Introduction: Rare Diseases Registries (RDRs) are important epidemiological tools for health policy makers and researchers working in the field of low prevalence diseases. The quality of procedures used when a RDR is defined and also during the first steps of their development sets the basis for its success and it is at the same time the best way to guarantee the long-term sustainability. Therefore the quality of RDRs is one of the key questions to be assured and designed during the first steps of their design. Aim of the study: To provide information useful to characterize high-quality RDRs by using an analytical approach Methods: At first, a score of quality was defined by choosing a small set of variables derived by the EPIRARE Survey and related to quality assurance, quality control and quality assessment. In a second step, the random forest (RF) method was applied to the Survey data, so that, starting from the entire set of 223 variables, a subset of variables can be identified as the most informative to afford a reliable characterization of different levels of quality. In the third step, the presence of statistically significant associations between each variable identified by RF and the indicator of quality of RDR were checked with a Chi-square or Fisher exact test. Then the Cochran-Armitage test was also carried out to identify the presence of a linear trend. Results: Out of the 223 variables RF identified a subset of 47 informative variables. Statistically significant associations are identified between 44 variables (out of 47) and the indicator of quality. A significant linear trend is observed for 43 variables, most of them showing a strong evidence (p<0.001). This set of variables was useful to characterize high-quality RDRs that seem to pay much attention to: ethical and legal issues (protocol approved by Ethical Committee), governance (Main Governing Board executing all the main functions and composed by internal members and external experts), communication of the activities (scientific meetings, scientific journals, website), access to data and security, sustainability. These findings are in line with the results of similar researches on disease registries [1], highlighting that quality is usually associated with a good oversight and governance mechanism and would benefit from a support in organization and management, information technology, epidemiology, and statistics.

Preparation of glucidic esters of branched carboxylic acids capable of inducing erythroid cellular differentiation

The present invention provides compds. which are esters of a carbohydrate, constituted by a carbohydrate unit or a glycoside derived therefrom, having at least one alc. group esterified with a branched chain carboxylic acid and having the remaining alc. groups in part protected with a protector group, such as an isopropylidene group, and partly in the form of free hydroxyls. These carbohydrate esters being provided with a significant biol. activity as erythroid cellular differentiation inducers can be utilized for the prepn. of a medicament for the therapeutic treatment of beta-talaxemia or tumors. Thus, Me 6-O-pivaloyl-3,1-O-isopropylidene- beta-D-galactopyranoside was prepd. and tested in the human cell line K562 for inducing erythroid cellular differentiation (65%)

Clinical Development and Commercialization of Advanced Therapy Medicinal Products in the European Union : How Are the Product Pipeline and Regulatory Framework Evolving?

The research and development of advanced therapy medicinal products (ATMPs) has been active in Europe and worldwide during recent years. Yet, the number of licensed products remains low. The main expected legal change in the near future in the European Union (EU) concerns the regulation on clinical trials (536/2014), which will come into force in 2018. With this new framework, a more harmonized and swift process for approval of clinical trials is anticipated, which is expected to support the entry of new innovations into the EU market. A survey on ATMPs in clinical trials during 2010–2015 in the EU was conducted in order to study the trends of ATMP development since the earlier survey published in 2012. According to the results, the number of clinical trials using ATMPs is slowly increasing in the EU. Yet, the focus is still in early development, and the projects are mainly carried out by small and medium-sized enterprises, academia, and hospitals. Oncology is the main area of clinical development. Yet, the balance between cell-based products and gene therapy medicinal products in this area may be changing in the future due to the new T-cell technologies. Many limitations and challenges are identified for ATMP development, requiring proportionate regulatory requirements. On the other hand, for such a novel field, the developers should be active in considering possible constraints and actively engage with authorities to look for solutions. This article provides up to-date information on forthcoming regulatory improvements and discusses the main challenges hampering the commercialization of ATMPs in the EU

The system for Rare Diseases in Tuscany region

The Department of Public Health of the Tuscany Region Following te recommendations of the national law on Rare Disease (RD) (DM279/2001) and EUCERD/DG-SANCO 2011 (Quality criteria for Centres of Expertise for Rare Diseases in member States) established a Regional Reference Network (RRN)including 150 accreditated Centres of Reference distribuite across The Region as Follows: 58 North-West Area, 60 Center Area, 32 South-West Area. The RRNcover the RD groups as listed in DM 279/2001: Nervous System and sensory organs, osteomuscolar and connective tissues, Tumors, Circulatory system, Skin and subcutaneous Tissue, Digestive systesm, Genito-urinary, Infectious diseases, Condition of perinatal origin, Respiratoy System, Symptoms signs and III-defined