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Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study
Background: Orphan drugs are used for the diagnosis, prevention and treatment of rare diseases that, in the European Union, are defined as disorders affecting no more than 5 persons in 10,000. So far, a total of around 800 orphan medicinal products have been approved by the European Medicines Agency...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9148958/ https://www.ncbi.nlm.nih.gov/pubmed/35652051 http://dx.doi.org/10.3389/fphar.2022.869842 |
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author | Gorini, Francesca Santoro, Michele Pierini, Anna Mezzasalma, Lorena Baldacci, Silvia Bargagli, Elena Boncristiano, Alessandra Brunetto, Maurizia Rossana Cameli, Paolo Cappelli, Francesco Castaman, Giancarlo Coco, Barbara Donati, Maria Alice Guerrini, Renzo Linari, Silvia Murro, Vittoria Olivotto, Iacopo Parronchi, Paola Pochiero, Francesca Rossi, Oliviero Scappini, Barbara Sodi, Andrea Vannucchi, Alessandro Maria Coi, Alessio |
author_facet | Gorini, Francesca Santoro, Michele Pierini, Anna Mezzasalma, Lorena Baldacci, Silvia Bargagli, Elena Boncristiano, Alessandra Brunetto, Maurizia Rossana Cameli, Paolo Cappelli, Francesco Castaman, Giancarlo Coco, Barbara Donati, Maria Alice Guerrini, Renzo Linari, Silvia Murro, Vittoria Olivotto, Iacopo Parronchi, Paola Pochiero, Francesca Rossi, Oliviero Scappini, Barbara Sodi, Andrea Vannucchi, Alessandro Maria Coi, Alessio |
author_sort | Gorini, Francesca |
collection | PubMed |
description | Background: Orphan drugs are used for the diagnosis, prevention and treatment of rare diseases that, in the European Union, are defined as disorders affecting no more than 5 persons in 10,000. So far, a total of around 800 orphan medicinal products have been approved by the European Medicines Agency, however the utilization profile of orphan drugs has yet to be explored. This study aimed at assessing the utilization profile of orphan drugs authorized for marketing by the Italian Medicines Agency using population-based data. Methods: A total of 21 orphan drugs used in outpatient settings, approved in the European Union before or during the 2008–2018 period and involving 15 rare diseases, were included in the study. The monitored population included patients with one of the conditions surveilled by the population-based Tuscany Registry of Rare Diseases and diagnosed between 2000–2018. A multi-database approach was applied, by linking data from the registry with information collected in drug prescriptions databases. The prevalence and intensity of use were estimated for the selected orphan drugs and other non-orphan medications, used to treat the same rare disease and for which a change in the prevalence of use was hypothesized after authorization of the orphan drug. Results: For some diseases (acquired aplastic anemia, tuberous sclerosis complex, most metabolic diseases) a low prevalence of orphan drugs use was observed (range between 1.1–12.5%). Conversely, orphan drugs were frequently used in hemophilia B, Wilson disease and idiopathic pulmonary fibrosis (maximum of 78.3, 47.6 and 41.8%, respectively). For hemophilia B and Leber’s hereditary optic neuropathy, there are currently no other medications used in clinical practice in addition to orphan drugs. Six orphan drugs were used for the treatment of pulmonary arterial hypertension, appearing the elective therapy for this disease, albeit with different utilization profiles (range of prevalence 1.7–55.6%). Conclusion: To the best of our knowledge, this is the first study investigating the utilization profile of orphan drugs prescribed in a defined geographical area, and providing relevant information to monitor over time potential changes in the prevalence of these medications as well as in the health care decision making. |
format | Online Article Text |
id | pubmed-9148958 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-91489582022-05-31 Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study Gorini, Francesca Santoro, Michele Pierini, Anna Mezzasalma, Lorena Baldacci, Silvia Bargagli, Elena Boncristiano, Alessandra Brunetto, Maurizia Rossana Cameli, Paolo Cappelli, Francesco Castaman, Giancarlo Coco, Barbara Donati, Maria Alice Guerrini, Renzo Linari, Silvia Murro, Vittoria Olivotto, Iacopo Parronchi, Paola Pochiero, Francesca Rossi, Oliviero Scappini, Barbara Sodi, Andrea Vannucchi, Alessandro Maria Coi, Alessio Front Pharmacol Pharmacology Background: Orphan drugs are used for the diagnosis, prevention and treatment of rare diseases that, in the European Union, are defined as disorders affecting no more than 5 persons in 10,000. So far, a total of around 800 orphan medicinal products have been approved by the European Medicines Agency, however the utilization profile of orphan drugs has yet to be explored. This study aimed at assessing the utilization profile of orphan drugs authorized for marketing by the Italian Medicines Agency using population-based data. Methods: A total of 21 orphan drugs used in outpatient settings, approved in the European Union before or during the 2008–2018 period and involving 15 rare diseases, were included in the study. The monitored population included patients with one of the conditions surveilled by the population-based Tuscany Registry of Rare Diseases and diagnosed between 2000–2018. A multi-database approach was applied, by linking data from the registry with information collected in drug prescriptions databases. The prevalence and intensity of use were estimated for the selected orphan drugs and other non-orphan medications, used to treat the same rare disease and for which a change in the prevalence of use was hypothesized after authorization of the orphan drug. Results: For some diseases (acquired aplastic anemia, tuberous sclerosis complex, most metabolic diseases) a low prevalence of orphan drugs use was observed (range between 1.1–12.5%). Conversely, orphan drugs were frequently used in hemophilia B, Wilson disease and idiopathic pulmonary fibrosis (maximum of 78.3, 47.6 and 41.8%, respectively). For hemophilia B and Leber’s hereditary optic neuropathy, there are currently no other medications used in clinical practice in addition to orphan drugs. Six orphan drugs were used for the treatment of pulmonary arterial hypertension, appearing the elective therapy for this disease, albeit with different utilization profiles (range of prevalence 1.7–55.6%). Conclusion: To the best of our knowledge, this is the first study investigating the utilization profile of orphan drugs prescribed in a defined geographical area, and providing relevant information to monitor over time potential changes in the prevalence of these medications as well as in the health care decision making. Frontiers Media S.A. 2022-05-16 /pmc/articles/PMC9148958/ /pubmed/35652051 http://dx.doi.org/10.3389/fphar.2022.869842 Text en Copyright © 2022 Gorini, Santoro, Pierini, Mezzasalma, Baldacci, Bargagli, Boncristiano, Brunetto, Cameli, Cappelli, Castaman, Coco, Donati, Guerrini, Linari, Murro, Olivotto, Parronchi, Pochiero, Rossi, Scappini, Sodi, Vannucchi and Coi. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pharmacology Gorini, Francesca Santoro, Michele Pierini, Anna Mezzasalma, Lorena Baldacci, Silvia Bargagli, Elena Boncristiano, Alessandra Brunetto, Maurizia Rossana Cameli, Paolo Cappelli, Francesco Castaman, Giancarlo Coco, Barbara Donati, Maria Alice Guerrini, Renzo Linari, Silvia Murro, Vittoria Olivotto, Iacopo Parronchi, Paola Pochiero, Francesca Rossi, Oliviero Scappini, Barbara Sodi, Andrea Vannucchi, Alessandro Maria Coi, Alessio Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study |
title | Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study |
title_full | Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study |
title_fullStr | Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study |
title_full_unstemmed | Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study |
title_short | Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study |
title_sort | orphan drug use in patients with rare diseases: a population-based cohort study |
topic | Pharmacology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9148958/ https://www.ncbi.nlm.nih.gov/pubmed/35652051 http://dx.doi.org/10.3389/fphar.2022.869842 |
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