A recently published study entitled Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions(1), with the participation of Inês Alves from ANDO Portugal (Patient Group Representative of the European Rare Bone Forum), highlights the importance of understanding the natural history of rare bone and mineral conditions to improve clinical practice and the development of new diagnostics and therapies(2). Additionally, the article also states that recruitment and long-term participation in registries are key challenges for researchers.
In brief, the European Patient Advocacy Group (or ePAGs) of the European Reference Network for Rare Bone Diseases — ERN BON(3) works together with other patient organisations, clinicians, experts and researchers for the development of the European Registry for Rare Bone and Mineral Diseases, which provides networks for learning and research collaboration between industry, scientific researchers, regulators, clinicians, patient organisations and families.
In the end, these registries provide an understanding of the natural history of diseases (especially rare ones) in terms of the type and severity of complications, progression, impact on quality of life, risk-benefit ratio and other clinical parameters, and are essential for improving people’s treatment pathways and the development of new diagnostics and therapies.
How was the study conducted?
In order to understand user needs, the European Reference Network for Rare Bone Diseases – ERN BOND(3) and the European Patient Advocacy Groups developed and implemented a multinational survey on the content and functionality of the database of choice for participants, through an iterative consensus process. The survey was disseminated by national and international patient and health professional groups, and results were analysed using descriptive statistics and multivariate regression.
What were the results?
There were 493 responses from 378 adults, 15 children and 100 parents, guardians or carers (PTCs) with 22 different rare bone and mineral conditions. The survey was conducted online in several languages, first released in English and then translated and proofread by native speakers of Czech, French, Dutch, Estonian, German, Italian, Portuguese and Swedish.
Results to note:
- Content on anxiety and socialisation scored the lowest
- Additional content was recommended by 205 respondents
- Respondents preferred data entry by their healthcare provider (HCP)
- Less than 50% of adults received follow-up care from their HCP at least annually
- 29% of adults responded that they were followed as needed
Table 1 — Rare bone and Mineral condition type of respondent
|Condition||Adult with rare disease||Child with rare disease||Parent/guardian/carer||Total|
|Aggrecan-related bone disorder||0||0||1||1|
|Arthrogryposis Multiplex Congenita||0||0||1||1|
|Hereditary Multiple Exostosis||14||0||4||18|
|Klippel Feil syndrome||1||0||0||1|
|Multiple Epiphyseal Dysplasia||0||0||1||1|
|Ollier disease / Maffucci syndrome||2||0||1||3|
|Osteogenesis Imperfecta—Other Type||17||1||9||27|
|Osteogenesis Imperfecta—Type I||86||3||26||115|
|Osteogenesis Imperfecta—Type III||47||1||10||58|
|Osteogenesis Imperfecta—Type IV||20||2||5||27|
|Osteogenesis Imperfecta—Unknown Type||27||2||7||36|
Table 2 — Interest in the features of the proposed database
|Proposed database feature||Adult||Parent/guardian or carer||p value|
|To help educate and increase the knowledge of doctors and health care professionals||High||346 (91.5%)||94 (94.0%)||NS|
|Low||4 (1.1%)||1 (1.0%)||NS|
|To help find better treatments||High||343 (90.7%)||96 (96.0%)||NS|
|To help provide better services and support for patients||High||334 (88.4%)||92 (92.0%)||NS|
|To allow researchers across the world access to my unidentified information (anonymised) for research approved by the Rare Bone Diseases European Reference Network, BOND||High||302 (79.9%)||88 (88.0%)||NS|
|To be able to share medical information about my disease with other medical staff in an emergency||High||297 (78.6%)||87 (87.0%)||NS|
|Low||16 (4.2%)||6 (6.0%)||NS|
|To be able to describe how the disease affects me (e.g., pain and tiredness)||High||295 (78.0%)||79 (79.0%)||NS|
|Low||15 (4.0%)||2 (2.0%)||NS|
|To help find ways to get an earlier diagnosis||High||289 (76.5%)||89 (89.0%)||p = 0.006|
|Low||19 (5.0%)||1 (1.0%)||NS|
|To be able to share medical information about my disease with my doctors||High||278 (73.5%)||82 (82.0%)||NS|
|Low||20 (5.3%)||5 (5.0%)||NS|
|To be able to share my experience in getting correctly diagnosed||High||256 (67.7%)||79 (79.0%)||p = 0.03|
|Low||29 (7.7%)||3 (3.0%)||NS|
|To have the possibility to be contacted by other researchers that have expertise of my disease about new studies I may want to get involved with||High||250 (66.1%)||78 (78.0%)||p = 0.02|
|Low||21 (5.6%)||6 (6.0%)||NS|
|To be able to share the impact of the disease on studying and/or working||High||244 (64.6%)||71 (71.0%)||NS|
|Low||21 (5.6%)||6 (6.0%)||NS|
|To allow drug companies across the world access to my unidentified information (anonymised) for research approved by the Rare Bone Diseases European Reference Network, BOND||High||243 (64.3%)||72 (72.0%)||NS|
|Low||27 (7.1%)||8 (8.0%)||NS|
|To be able to share my daily life experiences||High||233 (61.6%)||70 (70.0%)||NS|
|Low||29 (7.7%)||4 (4.0%)||NS|
|To find out how my information is used by researchers||High||231 (61.1%)||82 (82.0%)||p < 0.001|
|Low||30 (10.1%)||5 (5.0%)||NS|
|To have access to the names of health care professionals I see and have seen||High||228 (60.3%)||74 (74.0%)||p = 0.012|
|Low||38 (10.1%)||5 (5.0%)||NS|
|To be able to connect (with appropriate permissions) with other people with rare bone diseases||High||195 (51.6%)||62 (62.0%)||NS|
|Low||48 (12.7%)||8 (8.0%)||NS|
|To have access to the lists of medicines I am on and medication allergies I have||High||181 (47.9%)||65 (65.0%)||p = 0.002|
|Low||54 (14.3%)||10 (10.0%)||NS|
|To be able to share that I have anxiety and self-confidence problems||High||170 (45.%)||52 (52.0%)||NS|
|Low||61 (16.1%)||12 (12.0%)||NS|
|To be able to share my experience in making friends, socialising and having relationships||High||151 (39.9%)||55 (55.0%)||p = 0.007|
|Low||69 (18.3%)||8 (8.0%)||p = 0.01|
- This survey of individuals, their families, guardians and carers prioritised key components to create a research database for rare bone and mineral conditions in the European Union.
- The survey highlights issues related to the collection of psychosocial impacts as well as an analysis of levels of trust in the health care provider.
- The survey showed that only visits to specialised centres for data collection, although preferred by patients, will be insufficient for a substantial number of people, limiting generalisation.
- Combined healthcare provider and patient platforms will be needed to collect representative and complete natural history data for this patient group.
Know more about the ERBF Members, Mission and visit our website: rarebone.org
- Javaid MK, et al. Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions. Orphanet J Rare Dis. 2021;16(1):463. Published 2021 Nov 3. doi:10.1186/s13023-021-02069-9
- Administration USFaD. Rare Diseases: Natural History Studies for Drug Development—Draft Guidance. In: Office of Medical Products and Tobacco OoSMP, Office of Orphan Products Development, Office of Medical Products and Tobacco, Center for Drug Evaluation and Research, Office of Medical Products and Tobacco, Center for Biologics Evaluation and Research, editor. 2019.
- Heon-Klin V. European Reference networks for rare diseases: what is the conceptual framework? Orphanet J Rare Dis. 2017;12(1):137. doi: 10.1186/s13023-017-0676-3.