Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions
| العنوان: | Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions |
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| المؤلفون: | N Appelman-Dijkstra, M. Boarini, Luca Sangiorgi, Muhammad Javaid, I Alves, Ernbondwg., R. Skarberg, M Mordenti, I Westerheim, C Graasemann |
| المصدر: | Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021) Leiden University Erasmus MC 2021, ' Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions ', Orphanet Journal of Rare Diseases, vol. 16, no. 1, 463 . https://doi.org/10.1186/s13023-021-02069-9Test Orphanet Journal of Rare Diseases, 16(1). BMC Orphanet Journal of Rare Diseases |
| بيانات النشر: | BMC, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Adult, medicine.medical_specialty, Patient advocacy, Rare Diseases, Humans, Medicine, Pharmacology (medical), Registries, Patient group, Child, User needs, Survey, Genetics (clinical), Minerals, Motivation, Data collection, Descriptive statistics, business.industry, Research, General Medicine, Rare disease registries, Natural history, Family medicine, Rare bone and mineral conditions, Anxiety, Osteogenesis imperfecta, medicine.symptom, business, Psychosocial, Natural History |
| الوصف: | 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. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1750-1172 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc9a1e81b9d508f97a3c3adbd0da76deTest https://doaj.org/article/164bf1ebabe745438f86281f9fc1a1cdTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....fc9a1e81b9d508f97a3c3adbd0da76de |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17501172 |
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