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.
| Original language | English |
|---|---|
| Article number | 463 |
| Journal | Orphanet Journal of Rare Diseases |
| Volume | 16 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 3 Nov 2021 |
Bibliographical note
Funding Information:This survey was coordinated by members of the ERN BOND and has been supported by ERN BOND—European Reference Network on rare BONe Diseases, which is partly co-funded by the European Union within the framework of the Third Health Programme “ERN- 2016—Framework Partnership Agreement 2017–2021”. MKJ was supported by the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC). The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health.
Funding Information:
We wish to acknowledge the following members of the ERN BOND Working Group 5 as co-authors: Jeremy Allgrove, Eva Astrom, Meena Balasubramanian, Genevieve Baujat, Maria Francesca Bedeschi, Karine Briot, Christine Burren, Lorena Casareto, Moira Cheung, Gabriele Haeusler, Katre Maasalu, Giovanna Mantovani, Ann Nordgren, Elena Pianigiani, Christian Roux, Vrinda Saraff, Sergio Bernardo Sousa. We would like to thank all the patient groups, all respondents with rare bone and mineral conditions, their families, guardians and carers without whose support this survey would not have succeeded. This survey was coordinated by members of the ERN BOND and has been supported by ERN BOND—European Reference Network on rare BONe Diseases, which is partly co-funded by the European Union within the framework of the Third Health Programme “ERN- 2016—Framework Partnership Agreement 2017-2021”. MKJ was supported by the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC). The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health.
Publisher Copyright:
© 2021, The Author(s).
Keywords
- Natural History
- Osteogenesis imperfecta
- Rare bone and mineral conditions
- Rare disease registries
- Survey