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This study investigated the efficacy of an intervention model to promote student involvement in transition planning. The intervention included the coaching of youths in the application of student-directed planning skills to achieve transition goals, peer-based mentorship and parent support, and in-service education for school transition staff. An independent groups, repeated measures design was used to evaluate the impact of the intervention with 43 youth who experienced diverse disabilities. Results indicated that students in the treatment group demonstrated significant increases in their involvement in transition planning activities, empowerment, transition awareness, and level of participation in transition planning meetings compared with youths in the wait-list or control group. Implications of these findings are discussed and the need for additional research emphasized.It is clear that adolescents and young adults with disabilities experience major barriers to employment, post-secondary education, and independent at Freie Universitaet Berlin on May 15, 2015 cde.sagepub.com Downloaded from

BackgroundResearch into rare diseases is becoming more common, with recognition of the significant diagnostic and therapeutic care gaps. Registries are considered a key research methodology to address rare diseases. This report describes the structure of the Rare UK Diseases Study (RUDY) platform that aims to improve research processes and address many of the challenges of carrying out rare musculoskeletal disease research.RUDY is an internet-based platform with online registration, initial verbal consent, online capture of patient reported outcome measures and events within a dynamic consent framework. The database structure, security and governance framework are described.ResultsThere have been 380 participants recruited into RUDY with completed questionnaire rates in excess of 50 %. There has been one withdrawal and two participants have amended their consent options.ConclusionsThe strengths of RUDY include low burden for the clinical team, low research administration costs with high participant recruitment and ease of data collection and access. This platform has the potential to be used as the model for other rare diseases globally.

BackgroundHealth-related quality of life of adults with osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH) remains poorly described. The aim of this study was to describe the HRQoL of adults with osteogenesis imperfecta, fibrous dysplasia and X-linked hypophophataemia and perform a cost-utility simulation to calculate the maximum cost that a health care system would be willing to pay for a hypothetical treatment of a rare bone disease.ResultsParticipants completed the EQ-5D-5 L questionnaire between September 2014 and March 2016. For the economic simulation, we considered a hypothetical treatment that would be applied to OI participants in the lower tertile of the health utility score.A total of 109 study participants fully completed the EQ-5D-5 L questionnaire (response rate 63%). Pain/discomfort was the most problematic domain for participants with all three diseases (FD 31%, XLH 25%, OI 16%).The economic simulation identified an expected treatment impact of +2.5 QALYs gained per person during the 10-year period, which led to a willing to pay of £14,355 annually for a health care system willing to pay up to £50,000 for each additional QALY gained by an intervention.ConclusionsThis is the first study to quantitatively measure and compare the HRQoL of adults with OI, FD and XLH and the first to use such data to conduct an economic simulation leading to healthcare system willingness-to-pay estimates for treatment of musculoskeletal rare diseases at various cost-effectiveness thresholds.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-016-0538-4) contains supplementary material, which is available to authorized users.