Better understanding of disease progression during adulthood and identifying effective treatments and symptom management approaches are top research priorities for X-linked hypophosphatemia (XLH) and other rare musculoskeletal disorders that were identified in a survey of patients, caregivers, and healthcare professionals.
The study reporting the results, “Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance,” was published in the Orphanet Journal of Rare Diseases.
XLH and other rare musculoskeletal diseases, such as fibrous dysplasia or McCune-Albright Syndrome (FD/MAS) and osteogenesis imperfecta (OI), are characterized by bone deformities, frequent fractures, and pain.
The natural course of the disorders remains mostly unknown, with few treatment options and limited knowledge about long-term risks, disease management, and quality of life for patients. Diagnosis and disease management is further hampered by the variability of clinical symptoms.
“It may take years for some patients before appropriate diagnosis is given and high-quality specialist care is accessed,” the researchers wrote.
Over the past three decades, involving patients in research has been a way to establish research priorities and achieve the best possible care.
The James Lind Alliance, hosted by the National Institute for Health Research in the U.K., aims to bring together patients, caregivers, and healthcare professionals to establish research priority setting partnerships (PSPs).
A priority setting partnership from December 2015 to November 2018 focused on identifying the most important directions in the diagnosis, treatment, and management of XLH, FD/MAS, and OI. A steering group consisting of six patients’ representatives and five healthcare professionals was responsible for overseeing and leading the PSP.
In the first stage, a survey asked adult patients, caregivers, and health professionals about questions they had on the three conditions. In total, the team received 198 responses to 988 questions.
Most responders were patients (77%), followed by caregivers, family, or friends (11%), health/social care professionals (11%), and representatives of organizations (1%).
The PSP identified 364 questions as non-relevant, 186 did not require scientific research, 65 were about healthcare professional training and service, and 113 were classified as unclear, off-topic, or too broad.
Questions considered relevant were grouped if they were on the same topic. A list of 41 questions were identified. However, two questions — “Could diagnosis in adults be made faster and more accurate e.g. through use of genetic or other biomedical tests?” and “What is the optimal imaging technique for fibrous dysplasia?” — were deemed “unrecognized knowns” since enough research had already been published to provide reliable answers.
The remaining 39 questions were divided according to topic: treatment (14), prognosis (8), self-management (3), support and care (3), healthcare (3), and prevention (1).
In the second stage, these questions were prioritized using a survey. A total of 220 responses were received.
Patients, caregivers, and friends comprised most of the respondents (85%), followed by healthcare professionals (14%), and representatives of organizations (1%). Most answers were from women (83%), from outside the U.K. (56%), and from white people (94%).
This survey led to 25 questions being shortlisted to a top 10 list of research priorities in a workshop with patients, caregivers, and healthcare professionals.
The top 10 priorities addressed treatment outcomes, benefits, and side effects, disease prognosis, self-management of dental problems, psychological support, and how to prevent and stop disease progression.
Overall, these priorities highlight the need to better understand the progression of bone disease in adults, and to identify the most effective long-term treatments, the researchers said.
“The top 10 priorities should serve as guidelines for future research work on rare musculoskeletal disease, maximizing patient benefit and reducing funding waste on projects that are less urgent,” they wrote.
For more information on the top 10 shortlist and other questions discussed during the workshop, check the PSP website.
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