Collect and share data to create an integrated system


The last evolution in the healthcare sector is represented by the growing ability to record massive amounts of patient data, such as genetic, environmental and lifestyle information, electronic health records, and sensor and medical imaging data. These Big Data collection provide researchers with new tools and perspectives that are fundamental to developing non-traditional therapies such as advanced therapies personalized and precision medicine.

Fondazione Gianni Benzi is actively involved in this specific sector by leading many research activities based on Data Science tools and skills. Data Science and IT applications are used for the collection and analysis of data flowing into a patients’ registry (Multiregional Thalassaemia Registry) and a drug registry (EuOrphan).

IT tools are developed by Fondazione Gianni Benzi for applications that measure the performance of research activities and for the use of data of various origins (including the so-called ‘real word data’) to be shared and integrated to respond to common scientific queries. These collections need new skills to make FAIR the use of technology, amplifying the results that can be achieved. In this sector, Fondazione Gianni Benzi is collaborating to identify integrated models of databases applicable to all the thalassaemia/haemoglobinopathies 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.

Read "Living well with Thalassaemia"

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.

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