https://doi.org/10.4081/mem.2018.526

Dare voce ai pazienti nella ricerca sulle malattie rare e sui famaci orfani / Giving patients a voice in the rare diseases and orphan drugs research

Vol. 67 No. 1 (2018)
Submitted: March 23, 2018
Accepted: March 23, 2018
Published: March 23, 2018
prospettiva dei pazienti, vissuto di malattia, esiti riportati dai pazienti (PROs), malattie rare, trial clinici, medicina narrativa / patients’ perspective, illness experience, Patient Reported Outcomes (PROs), rare diseases, clinical trials
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Authors

Elena Mancini
elena.mancini@cnr.it
Consiglio Nazionale delle Ricerche; Istituto di Tecnologie Biomediche (Sede di Roma), Italy.
Roberta Martina Zagarella
Consiglio Nazionale delle Ricerche; Istituto di Tecnologie Biomediche (Sede di Roma), Italy.
L'articolo ha l'obiettivo di mettere in luce potenzialità e criticità dell'inclusione della prospettiva dei pazienti nella ricerca sulle malattie rare e sui farmaci orfani. A tal fine, nella prima parte, si propone un'analisi epistemologica dell'utilizzo dei racconti dell'esperienza individuale della malattia nella ricerca scientifica e nei trial clinici, facendo emergere, anche attraverso gli strumenti della medicina narrativa, le sfide teoriche e operative poste dall'inclusione della soggettività del paziente e del vissuto di malattia nonchè l'importanza della valorizzazione della prospettiva del paziente, sia in generale sia nella ricerca sulle malattie rare e sui farmaci orfani. Nella seconda parte, il testo analizza in particolare il ruolo degli esiti riportati dai pazienti o Patient Reported Outcomes (PROs), misure per la valutazione complessiva della salute basate sulla prospettiva dei pazienti stessi, incentrandosi sulla sperimentazione clinica nel campo delle malattie rare. In questo contesto, infatti, i racconti di malattia, raccolti e valorizzati da fonti istituzionali e associazioni di pazienti, hanno contribuito a far emergere importanti questioni critiche e difficoltà nell'impiego di outcome centrati sul paziente nello sviluppo di nuovi farmaci e trattamenti, generando una serie di documenti e raccomandazioni relative al loro utilizzo per il benessere della comunità dei malati rari.
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This paper aims to highlight the potentiality and criticality of including patients' perspective in rare diseases and orphan drugs research. In the first part, we propose an epistemological analysis of individual narrations of disease experience as they are used in scientific research and clinical trials. With the help of narrative medicine approach, this analysis points out theoretical and operational challenges of a perspective that includes patient's subjectivity and illness experience. Furthermore, it reveals the significance of patients' standpoints in general and in rare diseases as well as in the orphan drugs research. The second part of our article focuses on the role of the Patient reported Outcomes (PROs) - which are measures for the health's overall assessment based on patient's perspective - by investigating the impact on clinical trials for rare diseases. In this context, illness stories, which are collected and promoted by institutional sources and patients' associations, contribute to underline important critical issues at stake in the employment of patient-centered outcomes both in new drugs and in the treatments development. Moreover, these stories are crucial to elaborate documents and recommendations concerning the use of PROs for the rare patients' community welfare.

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How to Cite

Mancini, E., & Zagarella, R. M. (2018). Dare voce ai pazienti nella ricerca sulle malattie rare e sui famaci orfani / Giving patients a voice in the rare diseases and orphan drugs research. Medicina E Morale, 67(1), 25–40. https://doi.org/10.4081/mem.2018.526

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