Patient Journey and Real-World Effectiveness in Patients with Rare Diseases: The Case of Chronic Myeloid Leukaemia

Publishers: FedOA - Federico II University Press

Series:  Pharmàkon

Pages:  61

Language: Italian

Abstract: In the current context characterised by the growing, and often hypertrophic, availability of healthcare data, the mere accumulation of information does not necessarily translate into evidence that is useful for decision-making processes. This issue is particularly relevant in the field of rare diseases, where the limited number of cases and the need for highly specialised care pathways make it essential to adopt a methodological approach capable of integrating heterogeneous sources of information. In this scenario, chronic myeloid leukaemia (CML) assumes particular significance. This rare haematological malignancy has undergone a profound transformation in its clinical course following the introduction of tyrosine kinase inhibitors, a therapeutic breakthrough that has rendered systematic monitoring of treatment effectiveness indispensable in real-world clinical practice.

This volume aims to analyse the patient journey of individuals affected by rare oncological conditions through analytical models based on the integration of administrative and clinical databases. Administrative databases enable longitudinal observation of large population cohorts and the reconstruction of therapeutic trajectories over extended periods, while clinical databases provide essential information for interpreting treatment changes and patient response. The systematic integration of these sources is therefore a prerequisite for producing real-world effectiveness evidence and for strengthening pharmaceutical governance processes.

Through the analysis of the case of CML, this work highlights how the combined use of clinical and administrative data facilitates a more comprehensive understanding of care pathways, supporting informed decision-making in terms of prescribing appropriateness, healthcare planning, and service organisation. In this perspective, the integrated data approach represents a strategic tool to enhance the quality of care and to support governance models aimed at the effective management of rare diseases.