Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions

Abstract 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 underst...

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Autores principales:	Muhammad Kassim Javaid, Marina Mordenti, Manila Boarini, Luca Sangiorgi, ERN BOND Working Group, Ingunn Westerheim, Inês Alves, Rebecca Tvedt Skarberg, Natasha M. Appelman-Dijkstra, Corinna Grasemann
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Rare bone and mineral conditions Rare disease registries Osteogenesis imperfecta Survey Natural History Medicine R
Acceso en línea:	https://doaj.org/article/164bf1ebabe745438f86281f9fc1a1cd
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spelling	oai:doaj.org-article:164bf1ebabe745438f86281f9fc1a1cd2021-11-08T10:57:08ZPatients’ priorities and expectations on an EU registry for rare bone and mineral conditions10.1186/s13023-021-02069-91750-1172https://doaj.org/article/164bf1ebabe745438f86281f9fc1a1cd2021-11-01T00:00:00Zhttps://doi.org/10.1186/s13023-021-02069-9https://doaj.org/toc/1750-1172Abstract 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.Muhammad Kassim JavaidMarina MordentiManila BoariniLuca SangiorgiERN BOND Working GroupIngunn WesterheimInês AlvesRebecca Tvedt SkarbergNatasha M. Appelman-DijkstraCorinna GrasemannBMCarticleRare bone and mineral conditionsRare disease registriesOsteogenesis imperfectaSurveyNatural HistoryMedicineRENOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Rare bone and mineral conditions Rare disease registries Osteogenesis imperfecta Survey Natural History Medicine R
spellingShingle	Rare bone and mineral conditions Rare disease registries Osteogenesis imperfecta Survey Natural History Medicine R Muhammad Kassim Javaid Marina Mordenti Manila Boarini Luca Sangiorgi ERN BOND Working Group Ingunn Westerheim Inês Alves Rebecca Tvedt Skarberg Natasha M. Appelman-Dijkstra Corinna Grasemann Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions
description	Abstract 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.
format	article
author	Muhammad Kassim Javaid Marina Mordenti Manila Boarini Luca Sangiorgi ERN BOND Working Group Ingunn Westerheim Inês Alves Rebecca Tvedt Skarberg Natasha M. Appelman-Dijkstra Corinna Grasemann
author_facet	Muhammad Kassim Javaid Marina Mordenti Manila Boarini Luca Sangiorgi ERN BOND Working Group Ingunn Westerheim Inês Alves Rebecca Tvedt Skarberg Natasha M. Appelman-Dijkstra Corinna Grasemann
author_sort	Muhammad Kassim Javaid
title	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_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_sort	patients’ priorities and expectations on an eu registry for rare bone and mineral conditions
publisher	BMC
publishDate	2021
url	https://doaj.org/article/164bf1ebabe745438f86281f9fc1a1cd
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Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions

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