It is up to you to decide whether to join the RUDY study. The Participant Information Sheet will explain the study to you. If you would like to take part in the study after reading the Participant Information Sheet and speaking with a member of the RUDY team we will ask you to sign a Consent Form and return the signed Consent Form to us.
From the list below please select the relevant Consent Form version for your age group. Every participant or participant parent/guardian will go through the Consent Form with a member of the RUDY team during the telephone appointment. Please make sure you have read the appropriate Consent Form before your telephone appointment.
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.