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

V. 67 N. 1 (2018)
Ricevuto: marzo 23, 2018
Accettato: marzo 23, 2018
Pubblicato: marzo 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
Abstract Views: 764
PDF: 12
Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

Autori

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.
----------
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.

Dimensions

Altmetric

PlumX Metrics

Downloads

I dati di download non sono ancora disponibili.

Citations

Crossref
Scopus
Google Scholar
Europe PMC

Come citare

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

PAGEPress has chosen to apply the Creative Commons Attribution NonCommercial 4.0 International License (CC BY-NC 4.0) to all manuscripts to be published.

An Open Access Publication is one that meets the following two conditions:

  1. the author(s) and copyright holder(s) grant(s) to all users a free, irrevocable, worldwide, perpetual right of access to, and a license to copy, use, distribute, transmit and display the work publicly and to make and distribute derivative works, in any digital medium for any responsible purpose, subject to proper attribution of authorship, as well as the right to make small numbers of printed copies for their personal use.
  2. a complete version of the work and all supplemental materials, including a copy of the permission as stated above, in a suitable standard electronic format is deposited immediately upon initial publication in at least one online repository that is supported by an academic institution, scholarly society, government agency, or other well-established organization that seeks to enable open access, unrestricted distribution, interoperability, and long-term archiving.

Authors who publish with this journal agree to the following terms:

  1. Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
  2. Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
  3. Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.