ArticleOrphanet journal of rare diseases2020
Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Chronic pain and fatigue in multiple osteochondroma and Ollier disease, a systematic review.BMC musculoskeletal disorders · 2026Pooled it
- Article
- Transition Care for Young People with Rare Bone and Mineral Conditions: A Scoping Review.Advances in therapy · 2026Article
- Assessing rare disease understanding: a novel disease readiness level framework.Orphanet journal of rare diseases · 2025Article
- Article
- Pain Care Management in Rare Diseases.Healthcare (Basel, Switzerland) · 2023Article
- A model for crowdsourcing high-impact research questions for Castleman disease and other rare diseases.Orphanet journal of rare diseases · 2023Article
- The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review.Orphanet journal of rare diseases · 2023Article
- Research priorities to reduce the impact of musculoskeletal disorders: a priority setting exercise with the child health and nutrition research initiative method.The Lancet. Rheumatology · 2022Review
- Potential influences on optimizing long-term musculoskeletal health in children and adolescents with X-linked hypophosphatemia (XLH).Orphanet journal of rare diseases · 2022Review
- Experienced fatigue in people with rare disorders: a scoping review on characteristics of existing research.Orphanet journal of rare diseases · 2022Article
- Patient involvement in priority-setting for medical research: A mini review of initiatives in the rare disease field.Frontiers in public health · 2022Review
- Patient-Reported Complications, Symptoms, and Experiences of Living With X-Linked Hypophosphatemia Across the Life-Course.Journal of the Endocrine Society · 2021Article
- Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.Frontiers in endocrinology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 10 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOsteogenesis 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.
resultsThe 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.
conclusionsThis 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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.