This preprint is under consideration at Orphanet Journal of Rare Diseases. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
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Research
Muhammad Kassim Javaid
University of Oxford
Corresponding Author
ORCiD: https://orcid.org/0000-0001-7985-0048
License:
This work is licensed under a CC BY 4.0 License. Read Full License
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.
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. Findings were analysed using descriptive statistics and regression methods.
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.
Keywords
Rare bone and mineral conditions, Rare disease registries, Osteogenesis imperfecta, Survey, Natural History
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This is a list of supplementary files associated with this preprint. Click to download.
- SupplementaryFigure1.pptx
- SupplementaryFigure1.pptx
- SupplementaryFigure1.pptx
- SupplementaryMaterials.docx
- SupplementaryMaterials.docx
- SupplementaryMaterials.docx
- SupplementaryTables1.docx
- SupplementaryTables1.docx
- SupplementaryTables1.docx
- SupplementaryTables2.docx
- SupplementaryTables2.docx
- SupplementaryTables2.docx
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Peer Review Timeline
CURRENT STATUS: Under Review
Version 1
Posted 10 Dec, 2020
No community comments so far
Editorial decision: Major revision
On 24 Jan, 2021
Review #1 received
Received 10 Jan, 2021
Review #2 received
Received 01 Jan, 2021
Review #3 received
Received 01 Jan, 2021
Reviewer #3 agreed
On 31 Dec, 2020
Reviewer #2 agreed
On 29 Dec, 2020
Reviewers invited
Invitations sent on 28 Dec, 2020
Reviewer #1 agreed
On 28 Dec, 2020
Editor assigned
On 04 Dec, 2020
Submission checks complete
On 04 Dec, 2020
Editor invited
On 04 Dec, 2020
First submitted
On 15 Nov, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
Learn more about our company.
A new preprint design is coming!
We have improved readability, clarity, accessibility, and opportunities for engagement.
This preprint is under consideration at Orphanet Journal of Rare Diseases. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research
Muhammad Kassim Javaid
University of Oxford
Corresponding Author
ORCiD: https://orcid.org/0000-0001-7985-0048
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Under Review
Version 1
Posted 10 Dec, 2020
No community comments so far
Editorial decision: Major revision
On 24 Jan, 2021
Review #1 received
Received 10 Jan, 2021
Review #2 received
Received 01 Jan, 2021
Review #3 received
Received 01 Jan, 2021
Reviewer #3 agreed
On 31 Dec, 2020
Reviewer #2 agreed
On 29 Dec, 2020
Reviewers invited
Invitations sent on 28 Dec, 2020
Reviewer #1 agreed
On 28 Dec, 2020
Editor assigned
On 04 Dec, 2020
Submission checks complete
On 04 Dec, 2020
Editor invited
On 04 Dec, 2020
First submitted
On 15 Nov, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
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.
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. Findings were analysed using descriptive statistics and regression methods.
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.
Figure 1
Figure 1
Figure 1
Figure 2
Figure 2
Figure 2
Figure 3
Figure 3
Figure 3
Figure 4
Figure 4
Figure 4
This is a list of supplementary files associated with this preprint. Click to download.
- SupplementaryFigure1.pptx
- SupplementaryFigure1.pptx
- SupplementaryFigure1.pptx
- SupplementaryMaterials.docx
- SupplementaryMaterials.docx
- SupplementaryMaterials.docx
- SupplementaryTables1.docx
- SupplementaryTables1.docx
- SupplementaryTables1.docx
- SupplementaryTables2.docx
- SupplementaryTables2.docx
- SupplementaryTables2.docx
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