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Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance

BACKGROUND: Osteogenesis imperfecta, fibrous dysplasia/McCune-Albright syndrome and X-linked hypophosphatemia are three rare musculoskeletal diseases characterised by bone deformities, frequent fractures and pain. Little high-quality research exists on appropriate treatment and long-term management...

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Autores principales: Mickute, Gerda, Staley, Kristina, Delaney, Heather, Gardiner, Oliver, Hunter, Amy, Keen, Richard, Lockhart, Lorraine, Meade, Nick, Newman, Maria, Ralston, Stuart, Rush, Elaine, Upadhyaya, Sheela, Regan, Sandra, Watts, Laura, Walsh, Jennifer, White, Paul, Francis, Roger M., Javaid, M. Kassim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238497/
https://www.ncbi.nlm.nih.gov/pubmed/32430048
http://dx.doi.org/10.1186/s13023-020-01398-5
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author Mickute, Gerda
Staley, Kristina
Delaney, Heather
Gardiner, Oliver
Hunter, Amy
Keen, Richard
Lockhart, Lorraine
Meade, Nick
Newman, Maria
Ralston, Stuart
Rush, Elaine
Upadhyaya, Sheela
Regan, Sandra
Watts, Laura
Walsh, Jennifer
White, Paul
Francis, Roger M.
Javaid, M. Kassim
author_facet Mickute, Gerda
Staley, Kristina
Delaney, Heather
Gardiner, Oliver
Hunter, Amy
Keen, Richard
Lockhart, Lorraine
Meade, Nick
Newman, Maria
Ralston, Stuart
Rush, Elaine
Upadhyaya, Sheela
Regan, Sandra
Watts, Laura
Walsh, Jennifer
White, Paul
Francis, Roger M.
Javaid, M. Kassim
author_sort Mickute, Gerda
collection PubMed
description BACKGROUND: Osteogenesis imperfecta, fibrous dysplasia/McCune-Albright syndrome and X-linked hypophosphatemia are three rare musculoskeletal diseases characterised by bone deformities, frequent fractures and pain. Little high-quality research exists on appropriate treatment and long-term management of these conditions in adults. This is further worsened by limited research funding in rare diseases and a general mismatch between the existing research priorities and those of the patients. This partnership adopted the James Lind Alliance approach to identify the top 10 research priorities for rare musculoskeletal diseases in adults through joint patient, carer and healthcare professional collaboration. RESULTS: The initial survey for question collection recruited 198 respondents, submitting a total of 988 questions. 77% of the respondents were patients with a rare musculoskeletal disease. Following out-of-scope question exclusion, repeating query grouping and scientific literature check for answers, 39 questions on treatment and long-term management remained. In the second public survey, 220 respondents, of whom 85% were patients with a rare musculoskeletal disease, their carers, relatives or friends, prioritised these uncertainties, which allowed selection of the top 25. In the last stage, patients, carers and healthcare professionals gathered for a priority setting workshop to reach a consensus on the final top 10 research priorities. These focus on the uncertainties surrounding appropriate treatment and holistic long-term disease management, highlighting several aspects indirect to abnormal bone metabolism, such as extra-skeletal symptoms, psychological care of both patients and their families and disease course through ageing. CONCLUSIONS: This James Lind Alliance priority setting partnership is the first to investigate rare bone diseases. The priorities identified here were developed jointly by patients, carers and healthcare professionals. We encourage researchers, funding bodies and other stakeholders to use these priorities in guiding future research for those affected by rare musculoskeletal disorders.
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spelling pubmed-72384972020-05-27 Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance Mickute, Gerda Staley, Kristina Delaney, Heather Gardiner, Oliver Hunter, Amy Keen, Richard Lockhart, Lorraine Meade, Nick Newman, Maria Ralston, Stuart Rush, Elaine Upadhyaya, Sheela Regan, Sandra Watts, Laura Walsh, Jennifer White, Paul Francis, Roger M. Javaid, M. Kassim Orphanet J Rare Dis Research BACKGROUND: Osteogenesis imperfecta, fibrous dysplasia/McCune-Albright syndrome and X-linked hypophosphatemia are three rare musculoskeletal diseases characterised by bone deformities, frequent fractures and pain. Little high-quality research exists on appropriate treatment and long-term management of these conditions in adults. This is further worsened by limited research funding in rare diseases and a general mismatch between the existing research priorities and those of the patients. This partnership adopted the James Lind Alliance approach to identify the top 10 research priorities for rare musculoskeletal diseases in adults through joint patient, carer and healthcare professional collaboration. RESULTS: The initial survey for question collection recruited 198 respondents, submitting a total of 988 questions. 77% of the respondents were patients with a rare musculoskeletal disease. Following out-of-scope question exclusion, repeating query grouping and scientific literature check for answers, 39 questions on treatment and long-term management remained. In the second public survey, 220 respondents, of whom 85% were patients with a rare musculoskeletal disease, their carers, relatives or friends, prioritised these uncertainties, which allowed selection of the top 25. In the last stage, patients, carers and healthcare professionals gathered for a priority setting workshop to reach a consensus on the final top 10 research priorities. These focus on the uncertainties surrounding appropriate treatment and holistic long-term disease management, highlighting several aspects indirect to abnormal bone metabolism, such as extra-skeletal symptoms, psychological care of both patients and their families and disease course through ageing. CONCLUSIONS: This James Lind Alliance priority setting partnership is the first to investigate rare bone diseases. The priorities identified here were developed jointly by patients, carers and healthcare professionals. We encourage researchers, funding bodies and other stakeholders to use these priorities in guiding future research for those affected by rare musculoskeletal disorders. BioMed Central 2020-05-19 /pmc/articles/PMC7238497/ /pubmed/32430048 http://dx.doi.org/10.1186/s13023-020-01398-5 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Mickute, Gerda
Staley, Kristina
Delaney, Heather
Gardiner, Oliver
Hunter, Amy
Keen, Richard
Lockhart, Lorraine
Meade, Nick
Newman, Maria
Ralston, Stuart
Rush, Elaine
Upadhyaya, Sheela
Regan, Sandra
Watts, Laura
Walsh, Jennifer
White, Paul
Francis, Roger M.
Javaid, M. Kassim
Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance
title Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance
title_full Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance
title_fullStr Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance
title_full_unstemmed Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance
title_short Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance
title_sort rare musculoskeletal diseases in adults: a research priority setting partnership with the james lind alliance
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238497/
https://www.ncbi.nlm.nih.gov/pubmed/32430048
http://dx.doi.org/10.1186/s13023-020-01398-5
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