دورية أكاديمية
Feasibility of disease terminology systems for mapping orphan conditions and therapeutic indications of designated orphan medicines in the European Union.
| العنوان: | Feasibility of disease terminology systems for mapping orphan conditions and therapeutic indications of designated orphan medicines in the European Union. |
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| المؤلفون: | Jadoenathmisier KD; Dutch Medicines Evaluation Board, Utrecht, the Netherlands., Stoyanova-Beninska V; Dutch Medicines Evaluation Board, Utrecht, the Netherlands., Soons IM; National IT Institute for Healthcare (Nictiz), the Hague, the Netherlands., Leufkens HG; Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, the Netherlands., Bloem LT; Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, the Netherlands. Electronic address: l.t.bloem@uu.nl., Pasmooij AM; Dutch Medicines Evaluation Board, Utrecht, the Netherlands; Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, the Netherlands. |
| المصدر: | European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences [Eur J Pharm Sci] 2024 Aug 05, pp. 106871. Date of Electronic Publication: 2024 Aug 05. |
| Publication Model: | Ahead of Print |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Science B.V Country of Publication: Netherlands NLM ID: 9317982 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0720 (Electronic) Linking ISSN: 09280987 NLM ISO Abbreviation: Eur J Pharm Sci Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Amsterdam : Elsevier Science B.V Original Publication: Amsterdam ; New York : Elsevier, c1993- |
| مستخلص: | Background: In the European Union, rare diseases are defined as diseases that affect maximum 5 in 10,000 citizens. These diseases are typically associated with a high unmet medical need. To stimulate development and authorisation of medicines for rare diseases ('orphan conditions'), the European Commission (EC) can grant orphan designations. In order to enable systematic evaluation and communication of the diseases for which designated orphan medicines have (not) been developed and authorised, we aimed to investigate the feasibility of important disease terminology systems for mapping orphan conditions and therapeutic indications. Methods: We selected all designated orphan medicines that were authorised by the EC during 2022-2023 from the EC's Union Register of medicinal products. For these medicines, we extracted orphan conditions and associated therapeutic indications at initial marketing authorisation. The orphan conditions and separate elements of therapeutic indications such as target disease or condition, severity criteria and target population were assessed for availability in six major disease terminology systems: ICD-10, ICD-11, MedDRA, MeSH, Orphanet nomenclature of rare diseases, and SNOMED CT. Descriptive statistics were used to describe the ability of each disease terminology system to map orphan conditions and elements of therapeutic indications. Results: During 2022-2023, 37 designated orphan medicines were authorised that were designated for 40 orphan conditions (of which 37 unique) and granted 39 therapeutic indications (of which 37 unique). Overall, SNOMED CT covered most descriptions of orphan conditions (33/37, 89%) and target diseases or conditions within therapeutic indications (28/37, 76%). However, when allowing descriptions to be partly included and/or complemented by additional words, SNOMED CT, the Orphanet nomenclature, ICD-11 and MedDRA all had high coverage (92-97%). Other elements than target diseases or conditions within therapeutic indications were mostly lacking. Conclusions: Regulatory data concerning orphan conditions and therapeutic indications of designated orphan medicines seem to be best covered by SNOMED CT. However, which disease terminology system best facilitates systematic evaluation and communication about development and authorisation of designated orphan medicines also dependents on the specific use case. Given the frequent use of SNOMED CT in healthcare settings, it may also facilitate interoperability between regulatory and healthcare data, while for example ICD-11 may be better suited to generate statistics concerning drug development for rare diseases. Competing Interests: Declaration of competing interest The authors declared no competing interests for this work. (Copyright © 2024. Published by Elsevier B.V.) |
| فهرسة مساهمة: | Keywords: European Medicines Agency; Rare disease; classification; ontology; orphan designation; orphan medicinal product; terminology |
| تواريخ الأحداث: | Date Created: 20240807 Latest Revision: 20240807 |
| رمز التحديث: | 20240808 |
| DOI: | 10.1016/j.ejps.2024.106871 |
| PMID: | 39111579 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1879-0720 |
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| DOI: | 10.1016/j.ejps.2024.106871 |