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

Autor: Mickute G; Somerville College, University of Oxford, Oxford, OX2 6HD, UK. gerda.mickute@some.ox.ac.uk., Staley K; Montague House, 4 St. Mary's Street, Ross on Wye, HR9 5HT, UK., Delaney H; Patient representative, FDSS UK, London, UK., Gardiner O; Patient representative, XLH Network, London, UK., Hunter A; Genetic Alliance UK, N1 6AH, London, UK., Keen R; Royal National Orthopaedic Hospital, Stanmore, HA7 4LP, UK., Lockhart L; Patient, Banbury, Oxfordshire, UK., Meade N; Genetic Alliance UK, N1 6AH, London, UK., Newman M; Patient, London, UK., Ralston S; MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK., Rush E; Patient, London, UK., Upadhyaya S; Independent Adviser of the James Lind Alliance, London, UK., Regan S; NIHR Oxford Biomedical Research Centre Project Manager, Oxford, UK., Watts L; NIHR Musculoskeletal Biomedical Research Unit, University of Oxford, Oxford, OX3 7LD, UK., Walsh J; Metabolic Bone Centre, Sheffield Teaching Hospitals NHS Foundation Trust, S5 7AU, Sheffield, UK., White P; Patient, London, UK., Francis RM; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, NE1 7RU, UK., Javaid MK; The Botnar Research Centre, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, OX3 7LD, UK.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 May 19; Vol. 15 (1), pp. 117. Date of Electronic Publication: 2020 May 19.
DOI: 10.1186/s13023-020-01398-5
Abstrakt: 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.
Databáze: MEDLINE
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