EMA approved orphan medicines since the implementation of the orphan legislation

Abstract Background In the European Union (EU), the orphan legislation, aiming to increase the number of pharmacotherapies available for rare diseases, came into force in April 2000. This study examined the development of the selection of orphan medicines granted marketing authorisation, their appro...

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Main Authors: Eveliina Hahl, Terhi Kurko, Hanna Koskinen, Marja Airaksinen, Kati Sarnola
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-025-03756-7
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author Eveliina Hahl
Terhi Kurko
Hanna Koskinen
Marja Airaksinen
Kati Sarnola
author_facet Eveliina Hahl
Terhi Kurko
Hanna Koskinen
Marja Airaksinen
Kati Sarnola
author_sort Eveliina Hahl
collection DOAJ
description Abstract Background In the European Union (EU), the orphan legislation, aiming to increase the number of pharmacotherapies available for rare diseases, came into force in April 2000. This study examined the development of the selection of orphan medicines granted marketing authorisation, their approved indications, and the number of orphan medicines developed for paediatric use in EU during 2000–2022. This study also examined the availability of the orphan medicines with a marketing authorisation in the Finnish market in order to demonstrate their country level uptake in a single member state. Methods The material on orphan medicines’ marketing authorisations and their introduction were collected from the European Commission’s Community Registers in June 2022 and analysed with a qualitative document analysis. This study covered the period 2000–2022 since the introduction of the orphan legislation, and comparisons were made in 10-year periods of, 2001–2010 and 2011–2020. Results By May 2022, there were 213 novel orphan medicines approved in Europe during the observation period. Of them, 67% (n = 142) were on the market in Finland in May 2024. The number of new orphan medicines approved in Europe doubled from 63 products in 2001–2010 to 127 products in 2011–2020. Several orphan medicines were developed for certain type of rare diseases, such as haematological cancers. The proportion of orphan medicines approved for paediatric use decreased from 55% in 2001–2010 to 42% in 2011–2020. Conclusion The number of orphan medicines available within EU increased significantly after the orphan legislation came into force. The development of orphan medicines seemed to often focus on diseases or disease groups that already have available treatment options, while several rare diseases remain without available treatment. Even though rare diseases are more common in children, orphan medicines have not been developed for paediatric use in the same proportion.
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spelling doaj-art-998df8da57e64cdfa9a904a503c96c662025-08-20T03:26:47ZengBMCOrphanet Journal of Rare Diseases1750-11722025-06-0120111110.1186/s13023-025-03756-7EMA approved orphan medicines since the implementation of the orphan legislationEveliina Hahl0Terhi Kurko1Hanna Koskinen2Marja Airaksinen3Kati Sarnola4Faculty of Pharmacy, University of HelsinkiResearch Unit, The Social Insurance Institution of FinlandResearch Unit, The Social Insurance Institution of FinlandFaculty of Pharmacy, University of HelsinkiResearch Unit, The Social Insurance Institution of FinlandAbstract Background In the European Union (EU), the orphan legislation, aiming to increase the number of pharmacotherapies available for rare diseases, came into force in April 2000. This study examined the development of the selection of orphan medicines granted marketing authorisation, their approved indications, and the number of orphan medicines developed for paediatric use in EU during 2000–2022. This study also examined the availability of the orphan medicines with a marketing authorisation in the Finnish market in order to demonstrate their country level uptake in a single member state. Methods The material on orphan medicines’ marketing authorisations and their introduction were collected from the European Commission’s Community Registers in June 2022 and analysed with a qualitative document analysis. This study covered the period 2000–2022 since the introduction of the orphan legislation, and comparisons were made in 10-year periods of, 2001–2010 and 2011–2020. Results By May 2022, there were 213 novel orphan medicines approved in Europe during the observation period. Of them, 67% (n = 142) were on the market in Finland in May 2024. The number of new orphan medicines approved in Europe doubled from 63 products in 2001–2010 to 127 products in 2011–2020. Several orphan medicines were developed for certain type of rare diseases, such as haematological cancers. The proportion of orphan medicines approved for paediatric use decreased from 55% in 2001–2010 to 42% in 2011–2020. Conclusion The number of orphan medicines available within EU increased significantly after the orphan legislation came into force. The development of orphan medicines seemed to often focus on diseases or disease groups that already have available treatment options, while several rare diseases remain without available treatment. Even though rare diseases are more common in children, orphan medicines have not been developed for paediatric use in the same proportion.https://doi.org/10.1186/s13023-025-03756-7Rare diseaseOrphan medicineSelection of medicinesOrphan medicines legislationEurope
spellingShingle Eveliina Hahl
Terhi Kurko
Hanna Koskinen
Marja Airaksinen
Kati Sarnola
EMA approved orphan medicines since the implementation of the orphan legislation
Orphanet Journal of Rare Diseases
Rare disease
Orphan medicine
Selection of medicines
Orphan medicines legislation
Europe
title EMA approved orphan medicines since the implementation of the orphan legislation
title_full EMA approved orphan medicines since the implementation of the orphan legislation
title_fullStr EMA approved orphan medicines since the implementation of the orphan legislation
title_full_unstemmed EMA approved orphan medicines since the implementation of the orphan legislation
title_short EMA approved orphan medicines since the implementation of the orphan legislation
title_sort ema approved orphan medicines since the implementation of the orphan legislation
topic Rare disease
Orphan medicine
Selection of medicines
Orphan medicines legislation
Europe
url https://doi.org/10.1186/s13023-025-03756-7
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AT marjaairaksinen emaapprovedorphanmedicinessincetheimplementationoftheorphanlegislation
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