Collect and share data to create an integrated system
One of the areas in which the Foundation has developed its expertise is the Information Technology (IT), which has established itself in recent years as a powerful tool for the progress of scientific research in many fields and especially in the biomedical field. The Gianni Benzi Foundation has activated this specific sector by setting up an IT-Lab and leading many research activities that integrate IT tools and skills.
IT applications are used for the collection and analysis of data flowing into patient registries (Thalassaemia Registry) or drugs (EuOrphan) or more recently for applications that measure the performance of research activities in general (PEPPER project) and clinical (c4c project). A field of more recent application is the use of data of various origins (including the so-called ‘real word data’) to integrate the data that can be collected during clinical studies.
These collections need new skills to make FAIR the use of technology, amplifying the results that can be achieved. In this sector, the Gianni Benzi Foundation is experimenting with an integrated model of database based on a data-sharing process and to merge all the thalassaemia patients data into a single virtual site.
Italian Interregional Registry for Thalassaemia patients
HTA-Thal is an Italian Multiregional Thalassaemia registry that includes epidemiological, clinical, diagnostic and therapeutic data on about 2.000 thalassaemia patients as well as technology assessment data on methods to evaluate iron overload useful for planning of services in a cost-efficacious way.
This registry originates from an Italian project “Rete Interregionale per la Thalassemia: HTA dei percorsi diagnostico-strumentali e terapeutici e monitoraggio dell’accumulo di ferro” conducted in 2008 and funded from the Italian Health Ministry (under Article 12 of Legislative Decree 502/1992) and by Fondazione Italiana ‘Leonardo Giambrone’ per la Guarigione dalla Thalassemia- Ente morale Onlus).
In 2009, a prospective, multi-centre, observational study on quality of life, patient satisfaction and disease costs, was conducted on 272 in patients with β-thalassaemia major, both adolescents and adults, from 13 clinical centres. This study has demonstrated the relevance to reach good chelation regimens able to delay or avoid complications affecting thalassaemia patients with a huge impact on their Quality of Life.
FGB voluntarily manages the registry after the public funds period and is collaborating within other data collection initiatives (such as Myocardial Iron Overload in Thalassaemia - MIOT and the International Working Group on Thalassaemia, collecting data from relevant thalassaemia and other haemoglobinopathies registries), aimed to create a common source of electronic data system.
HTA-THAL provides a map of the existing Italian thalassaemia centres with details on services and tools available at each participating centre. It represents a useful instrument to conduct analyses and follow-up on the disease outcomes and emerging issues.
European Database of Orphan Medicines
EuOrphan is an online database collecting regulatory and scientific information on drugs for rare diseases: active substances designated or approved as ‘orphan’, designation date, orphan indication, the holder of the designation and the Market Authorisation, ATC (Anatomical Therapeutic Chemical Classification System), trade name, therapeutic indication and approved ages, date of approval, genetic disease and if it affects children.
Thanks to the information available on EuOrphan, it is also possible to access the general statistics, the comparative analysis between Europe and the United States on designations and approvals, and the analysis of the failures found in the approval of designated orphan medicines.