Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Javaid, Muhammad Kassim, Mordenti, Marina, Boarini, Manila, Sangiorgi, Luca, Westerheim, Ingunn, Alves, Inês, Skarberg, Rebecca Tvedt, Appelman-Dijkstra, Natasha M., Grasemann, Corinna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
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
_version_ 1784593728083591168
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
work_keys_str_mv AT javaidmuhammadkassim patientsprioritiesandexpectationsonaneuregistryforrareboneandmineralconditions
AT mordentimarina patientsprioritiesandexpectationsonaneuregistryforrareboneandmineralconditions
AT boarinimanila patientsprioritiesandexpectationsonaneuregistryforrareboneandmineralconditions
AT sangiorgiluca patientsprioritiesandexpectationsonaneuregistryforrareboneandmineralconditions
AT patientsprioritiesandexpectationsonaneuregistryforrareboneandmineralconditions
AT westerheimingunn patientsprioritiesandexpectationsonaneuregistryforrareboneandmineralconditions
AT alvesines patientsprioritiesandexpectationsonaneuregistryforrareboneandmineralconditions
AT skarbergrebeccatvedt patientsprioritiesandexpectationsonaneuregistryforrareboneandmineralconditions
AT appelmandijkstranatasham patientsprioritiesandexpectationsonaneuregistryforrareboneandmineralconditions
AT grasemanncorinna patientsprioritiesandexpectationsonaneuregistryforrareboneandmineralconditions