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

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

ConditionAdult with rare diseaseChild with rare diseaseParent/guardian/carerTotal
(n)(n)(n)(n)
Achondroplasia30811
Aggrecan-related bone disorder0011
Arthrogryposis Multiplex Congenita0011
Diastrophic Dysplasia1001
FD/MAS190322
Fibrodysplasia Ossificans122620
Hereditary Multiple Exostosis140418
Hypoparathyroidism4004
Hypophosphatasia180220
Klippel Feil syndrome1001
Multiple Epiphyseal Dysplasia0011
Nail-Patella Syndrome0101
Ollier disease / Maffucci syndrome2013
Osteogenesis Imperfecta—Other Type171927
Osteogenesis Imperfecta—Type I86326115
Osteogenesis Imperfecta—Type III4711058
Osteogenesis Imperfecta—Type IV202527
Osteogenesis Imperfecta—Unknown Type272736
Osteopetrosis2002
Pseudoachondroplasia0011
Pseudohypoparathyroidsim0101
SAPHO430346
Sotos Syndrome0011
Spondylo-Epiphyseal Dysplasia2024
Stickler syndrome0011
XLH512457
Don’t Know90413
Total37815100493

Table 2 — Interest in the features of the proposed database

Proposed database featureAdultParent/guardian or carerp value
To help educate and increase the knowledge of doctors and health care professionalsHigh346 (91.5%)94 (94.0%)NS
Low4 (1.1%)1 (1.0%)NS
To help find better treatmentsHigh343 (90.7%)96 (96.0%)NS
LowNS
To help provide better services and support for patientsHigh334 (88.4%)92 (92.0%)NS
LowNS
To allow researchers across the world access to my unidentified information (anonymised) for research approved by the Rare Bone Diseases European Reference Network, BONDHigh302 (79.9%)88 (88.0%)NS
LowNS
To be able to share medical information about my disease with other medical staff in an emergencyHigh297 (78.6%)87 (87.0%)NS
Low16 (4.2%)6 (6.0%)NS
To be able to describe how the disease affects me (e.g., pain and tiredness)High295 (78.0%)79 (79.0%)NS
Low15 (4.0%)2 (2.0%)NS
To help find ways to get an earlier diagnosisHigh289 (76.5%)89 (89.0%)p = 0.006
Low19 (5.0%)1 (1.0%)NS
To be able to share medical information about my disease with my doctorsHigh278 (73.5%)82 (82.0%)NS
Low20 (5.3%)5 (5.0%)NS
To be able to share my experience in getting correctly diagnosedHigh256 (67.7%)79 (79.0%)p = 0.03
Low29 (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 withHigh250 (66.1%)78 (78.0%)p = 0.02
Low21 (5.6%)6 (6.0%)NS
To be able to share the impact of the disease on studying and/or workingHigh244 (64.6%)71 (71.0%)NS
Low21 (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, BONDHigh243 (64.3%)72 (72.0%)NS
Low27 (7.1%)8 (8.0%)NS
To be able to share my daily life experiencesHigh233 (61.6%)70 (70.0%)NS
Low29 (7.7%)4 (4.0%)NS
To find out how my information is used by researchersHigh231 (61.1%)82 (82.0%)p < 0.001
Low30 (10.1%)5 (5.0%)NS
To have access to the names of health care professionals I see and have seenHigh228 (60.3%)74 (74.0%)p = 0.012
Low38 (10.1%)5 (5.0%)NS
To be able to connect (with appropriate permissions) with other people with rare bone diseasesHigh195 (51.6%)62 (62.0%)NS
Low48 (12.7%)8 (8.0%)NS
To have access to the lists of medicines I am on and medication allergies I haveHigh181 (47.9%)65 (65.0%)p = 0.002
Low54 (14.3%)10 (10.0%)NS
To be able to share that I have anxiety and self-confidence problemsHigh170 (45.%)52 (52.0%)NS
Low61 (16.1%)12 (12.0%)NS
To be able to share my experience in making friends, socialising and having relationshipsHigh151 (39.9%)55 (55.0%)p = 0.007
Low69 (18.3%)8 (8.0%)p = 0.01

Findings

  • 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

References

  1. 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
  2. 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.
  3. 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.