Using the RUDY study platform to capture quality of life of adults with rare diseases of the bone: Preliminary findings
The development of new treatments for rare bone diseases is urgently needed. Assessing a patient’s health-related quality of life is useful for determining if a treatment is beneficial and cost effective. The EQ5D-5L is a questionnaire recommended by the National Institute for Clinical Excellence (NICE) for evaluating quality of life.
The quality of life for adults with rare bone diseases is currently poorly understood. Therefore we compared quality of life for adults with three rare bone diseases- osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH), using the EQ5D-5L questionnaire.
A total of 51 participants from the UK completed the questionnaire. We found overall a wide variation in quality of life scores. The majority of participants reported pain and discomfort to be significant problems in their lives. When comparing the three diseases, those with FD reported more anxiety and depression than participants with OI and XLH. Participants with XLH reported a better overall quality of life score. These initial results suggest a wide range of quality of life amongst adults with OI, XLH and FD. We hope a better understanding of health-related quality of life in this population will help guide the development of new treatments and funding for patient services.
This paper described how the RUDY study is different from other studies that are working on improving our understanding of rare bone diseases. It describes the recording of crucial information online as well as how the research is managed and kept secure.
Osteogenesis Imperfecta is a rare bone disease that makes bones more fragile, so the break after even minor falls or injuries. This paper looked at a small group of patients with osteogenesis imperfecta in the RUDY study. The researchers from Sheffield were able to show how cells from a skin sample produce different protein structures. This new information will help with the diagnosis of osteogenesis imperfecta and help explain some of the other problems patients can have.
This paper describes how RUDY was set up with patients and then the steps that we took to design, build and then launch the website. The article describes the time of consent used in RUDY called dynamic consent as well as initial feedback from people who took part.
Osteogenesis Imperfecta is a rare bone disease that makes bones more fragile, so the break after even minor falls or injuries. This paper used information from adults with OI who completed questionnaires in the RUDY study. The research shows that adults with more nerve-like pain and tiredness had lower mobility and physical function. The impact of the severity of osteogenesis imperfecta was much smaller for measures of anxiety and depression.