A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance
Abstract Patient registries serve to overcome the research limitations inherent in the study of rare diseases, where patient numbers are typically small. Despite the value of real-world data collected through registries, adequate design and maintenance are integral to data quality. We aimed to descr...
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| Format: | Article |
| Language: | English |
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BMC
2023-05-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-023-02719-0 |
| _version_ | 1797831923607797760 |
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| author | Isabel C. Hageman Iris A.L.M. van Rooij Ivo de Blaauw Misel Trajanovska Sebastian K. King |
| author_facet | Isabel C. Hageman Iris A.L.M. van Rooij Ivo de Blaauw Misel Trajanovska Sebastian K. King |
| author_sort | Isabel C. Hageman |
| collection | DOAJ |
| description | Abstract Patient registries serve to overcome the research limitations inherent in the study of rare diseases, where patient numbers are typically small. Despite the value of real-world data collected through registries, adequate design and maintenance are integral to data quality. We aimed to describe an overview of the challenges in design, quality management, and maintenance of rare disease registries. A systematic search of English articles was conducted in PubMed, Ovid Medline/Embase, and Cochrane Library. Search terms included “rare diseases, patient registries, common data elements, quality, hospital information systems, and datasets”. Inclusion criteria were any manuscript type focused upon rare disease patient registries describing design, quality monitoring or maintenance. Biobanks and drug surveillances were excluded. A total of 37 articles, published between 2001 and 2021, met the inclusion criteria. Patient registries covered a wide range of disease areas and covered multiple geographical locations, with a predisposition for Europe. Most articles were methodological reports and described the design and setup of a registry. Most registries recruited clinical patients (92%) with informed consent (81%) and protected the collected data (76%). Whilst the majority (57%) collected patient-reported outcome measures, only few (38%) consulted PAGs during the registry design process. Few reports described details regarding quality management (51%) and maintenance (46%). Rare disease patient registries are valuable for research and evaluation of clinical care, and an increasing number have emerged. However, registries need to be continuously evaluated for data quality and long-term sustainability to remain relevant for future use. |
| first_indexed | 2024-04-09T14:00:37Z |
| format | Article |
| id | doaj.art-f94304cb55db4477af73a277955f4e89 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-09T14:00:37Z |
| publishDate | 2023-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-f94304cb55db4477af73a277955f4e892023-05-07T11:23:32ZengBMCOrphanet Journal of Rare Diseases1750-11722023-05-0118111110.1186/s13023-023-02719-0A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenanceIsabel C. Hageman0Iris A.L.M. van Rooij1Ivo de Blaauw2Misel Trajanovska3Sebastian K. King4Department for Surgery, Pediatric Surgery, Amalia Children’s Hospital, Radboud University Medical CenterDepartment for Health Evidence, Radboud University Medical CenterDepartment for Surgery, Pediatric Surgery, Amalia Children’s Hospital, Radboud University Medical CenterSurgical Research, Murdoch Children’s Research InstituteSurgical Research, Murdoch Children’s Research InstituteAbstract Patient registries serve to overcome the research limitations inherent in the study of rare diseases, where patient numbers are typically small. Despite the value of real-world data collected through registries, adequate design and maintenance are integral to data quality. We aimed to describe an overview of the challenges in design, quality management, and maintenance of rare disease registries. A systematic search of English articles was conducted in PubMed, Ovid Medline/Embase, and Cochrane Library. Search terms included “rare diseases, patient registries, common data elements, quality, hospital information systems, and datasets”. Inclusion criteria were any manuscript type focused upon rare disease patient registries describing design, quality monitoring or maintenance. Biobanks and drug surveillances were excluded. A total of 37 articles, published between 2001 and 2021, met the inclusion criteria. Patient registries covered a wide range of disease areas and covered multiple geographical locations, with a predisposition for Europe. Most articles were methodological reports and described the design and setup of a registry. Most registries recruited clinical patients (92%) with informed consent (81%) and protected the collected data (76%). Whilst the majority (57%) collected patient-reported outcome measures, only few (38%) consulted PAGs during the registry design process. Few reports described details regarding quality management (51%) and maintenance (46%). Rare disease patient registries are valuable for research and evaluation of clinical care, and an increasing number have emerged. However, registries need to be continuously evaluated for data quality and long-term sustainability to remain relevant for future use.https://doi.org/10.1186/s13023-023-02719-0Rare diseasePatient registryData qualityDesignMaintenance |
| spellingShingle | Isabel C. Hageman Iris A.L.M. van Rooij Ivo de Blaauw Misel Trajanovska Sebastian K. King A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance Orphanet Journal of Rare Diseases Rare disease Patient registry Data quality Design Maintenance |
| title | A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance |
| title_full | A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance |
| title_fullStr | A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance |
| title_full_unstemmed | A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance |
| title_short | A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance |
| title_sort | systematic overview of rare disease patient registries challenges in design quality management and maintenance |
| topic | Rare disease Patient registry Data quality Design Maintenance |
| url | https://doi.org/10.1186/s13023-023-02719-0 |
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