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Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions
BACKGROUND: Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics. Recruitment and long-term participation in registries are key challenges for researchers. METHODS: To understand the...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8564998/ https://www.ncbi.nlm.nih.gov/pubmed/34732217 http://dx.doi.org/10.1186/s13023-021-02069-9 |
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author | Javaid, Muhammad Kassim Mordenti, Marina Boarini, Manila Sangiorgi, Luca Westerheim, Ingunn Alves, Inês Skarberg, Rebecca Tvedt Appelman-Dijkstra, Natasha M. Grasemann, Corinna |
author_facet | Javaid, Muhammad Kassim Mordenti, Marina Boarini, Manila Sangiorgi, Luca Westerheim, Ingunn Alves, Inês Skarberg, Rebecca Tvedt Appelman-Dijkstra, Natasha M. Grasemann, Corinna |
author_sort | Javaid, Muhammad Kassim |
collection | PubMed |
description | BACKGROUND: Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics. Recruitment and long-term participation in registries are key challenges for researchers. METHODS: To understand the user needs, the European Reference Network on Rare Bone Diseases (ERN BOND) and European Patient Advocacy Groups developed and implemented a multinational survey about the patient’s preferred database content and functionality through an iterative consensus process. The survey was disseminated by national and international patient groups and healthcare professionals. The findings were analysed using descriptive statistics and multivariate regression. RESULTS: There were 493 eligible responses from 378 adults, 15 children and 100 parents, guardians or carers (PGC) across 22 rare bone and mineral conditions. Osteogenesis imperfecta constituted 53.4% of responses. Contents related to improving treatment and medical services scored the highest and contents about anxiety and socializing scored less highly. Additional content was recommended by 205 respondents. Respondents preferred data entry by their Healthcare Provider (HCP). However, less than 50% of adults received followup from their specialist HCP at least annually and 29% were followed up as needed. CONCLUSIONS: This survey of individuals, their family, guardians and carers has prioritised the key components for an EU-based rare bone and mineral condition research database. The survey highlights issues around collecting psychosocial impacts as well as measures of HCP trust. The survey demonstrated that using only specialist centre visits for data collection, while preferred by patients, will miss a substantial number of individuals, limiting generalisability. Combined HCP and patient platforms will be required to collect representative and complete natural history data for this patient group. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-02069-9. |
format | Online Article Text |
id | pubmed-8564998 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-85649982021-11-04 Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions Javaid, Muhammad Kassim Mordenti, Marina Boarini, Manila Sangiorgi, Luca Westerheim, Ingunn Alves, Inês Skarberg, Rebecca Tvedt Appelman-Dijkstra, Natasha M. Grasemann, Corinna Orphanet J Rare Dis Research BACKGROUND: Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics. Recruitment and long-term participation in registries are key challenges for researchers. METHODS: To understand the user needs, the European Reference Network on Rare Bone Diseases (ERN BOND) and European Patient Advocacy Groups developed and implemented a multinational survey about the patient’s preferred database content and functionality through an iterative consensus process. The survey was disseminated by national and international patient groups and healthcare professionals. The findings were analysed using descriptive statistics and multivariate regression. RESULTS: There were 493 eligible responses from 378 adults, 15 children and 100 parents, guardians or carers (PGC) across 22 rare bone and mineral conditions. Osteogenesis imperfecta constituted 53.4% of responses. Contents related to improving treatment and medical services scored the highest and contents about anxiety and socializing scored less highly. Additional content was recommended by 205 respondents. Respondents preferred data entry by their Healthcare Provider (HCP). However, less than 50% of adults received followup from their specialist HCP at least annually and 29% were followed up as needed. CONCLUSIONS: This survey of individuals, their family, guardians and carers has prioritised the key components for an EU-based rare bone and mineral condition research database. The survey highlights issues around collecting psychosocial impacts as well as measures of HCP trust. The survey demonstrated that using only specialist centre visits for data collection, while preferred by patients, will miss a substantial number of individuals, limiting generalisability. Combined HCP and patient platforms will be required to collect representative and complete natural history data for this patient group. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-02069-9. BioMed Central 2021-11-03 /pmc/articles/PMC8564998/ /pubmed/34732217 http://dx.doi.org/10.1186/s13023-021-02069-9 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Javaid, Muhammad Kassim Mordenti, Marina Boarini, Manila Sangiorgi, Luca Westerheim, Ingunn Alves, Inês Skarberg, Rebecca Tvedt Appelman-Dijkstra, Natasha M. Grasemann, Corinna Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions |
title | Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions |
title_full | Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions |
title_fullStr | Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions |
title_full_unstemmed | Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions |
title_short | Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions |
title_sort | patients’ priorities and expectations on an eu registry for rare bone and mineral conditions |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8564998/ https://www.ncbi.nlm.nih.gov/pubmed/34732217 http://dx.doi.org/10.1186/s13023-021-02069-9 |
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