Bone Abstracts

Background: There are currently 456 rare bone disease recorded within 40 groups. Within many of these diagnoses there is marked heterogeneity of severity and complications that is often not explained by current understanding of disease mechanisms. There is an urgent need to improve the care of these patients by developing novel diagnostic tests and therapies based on understanding sub-phenotypes within existing diagnostic groups.

Aim: To develop a national cohort of participants with rare disorders of bones, joints or blood vessels in the UK from which to increase understanding of disease mechanisms for sub- phenotyping.

Method: 5-year prospective cohort study. Participants aged 0–100 years with clinical diagnosis of a rare disorder of bones, joints or blood vessels are recruited via the study website www.rudystudy.org. Participants complete online questionnaires for health-related quality of life, pain and function questionnaires every 6 months; for children these including PedsQL4.0, CHAQ, PedQL and Wong-Baker Facies. Further phenotyping including physical examinations, DXA scans and blood and urine tests are performed depending on individual projects.

Results: The secure open-source rare diseases of bones, joints and vessels study (RUDY) database is now online and includes features such as web based registration, dynamic consent and online assessment and two-way communication. These features have been tested by over 100 to date participants successfully with good feedback. Further, this has brought together specialist centres across the UK from both paediatric and adult services within a single clinical and academic network.

Conclusion: The RUDY database has delivered a novel approach to recruit and standardize assessment patients across the life-course with rare diseases. The platform offers opportunities for international collaboration and cohort based research.

Disclosure: The authors declared no competing interests.