Enhancing the use of data for the scientific research
DATA SCIENCE AND INFORMATION TECHNOLOGY
The last evolution in the healthcare sector is represented by the growing ability to record massive amounts of patients’ health data. This Big Data collection provides researchers with new tools and perspectives to foster the development of innovative therapies.
We are actively involved in this sector by leading many research activities based on Data Science tools and skills.
Information Technology (IT) tools are designed, developed and managed by Fondazione Gianni Benzi to create IT platforms and dashboards for Project governance and Performance Monitoring of research activities as well as for Project Management and e-learning environments.
Data Science and IT applications are used for patients’ registries (Multiregional Thalassaemia Registry) and drug registries (EuOrphan), surveys and other research data collections.
A lot of efforts are also made to guide and provide FAIRification expertise for data sharing and health data reuse through these registries and other data sources.
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.
The information included in EuOrphan allows the descriptive and statistical analyses by age, rare condition, therapeutic area and so on, estimating the coverage of therapeutic needs for rare diseases as well as comparing data between Europe and the United States by consulting the Food and Drug Administration database.
