Dr. Kassim Javaid of The Botnar Research Centre, Oxford University Hospital, NHS Foundation Trust – NHS healthcare resource use and costs for people with Osteogenesis Imperfecta
The care for adults with OI is fragmented, and most do not receive the quality of care they need. To address this, NHS England is developing a specification for expert rare bone disease centres. A Central concept is that better coordinated care leads to better outcomes for people with rare diseases, their family and the wider NHS. It is therefore crucial for the NHS to understand the healthcare services used by people with OI and their costs. This research application directly addresses these questions by describing how adults with OI use NHS services in hospitals as well as in the community. This information will be useful for people with OI, their families, clinicians and policymakers.
The results for the first part of this study have been published. You can read the paper here
Impact on Employment
The researchers are now looking into the impact of Osteogenesis Imperfecta on productivity, employment and unemployment.
They have analysed the first 30 responses and have potentially extremely useful results. To be impactful, we now need as many adults with OI, whether you are working, not working or retired to consider helping with this research
We ask all OI adults to consider joining this online study and completing the awkwardly named form VOLP (Valuation of Lost Productivity).
You can read more about the survey and consider joining www.rudystudy.org and clicking on the orange “Find out more” button. If you are happy to join, click on the green “Join us now” button.
After you have given consent, you will find a list of questionnaires to complete on your secure ‘To do’ page under ‘Please complete these first’ Health surveys. If you have already completed this questionnaire, completing the follow-up questionnaires at six months would be really helpful. If you have any questions about joining or about the study, do email us at firstname.lastname@example.org.
All the results will be anonymised and grouped together so no one will be identifiable. The findings will be sent to the BBS and a summary of the key messages will be put in your secure RUDY profile page so that you can see the value of your contribution to the study.
If you want to take part, please try to complete the questionnaires by the end of March 2022, so your inputs can be included.
One of the themes the OI community asked us to provide more information and resources on is Independent Living.
Due to this being such a wide area covering topics from leaving home, starting a career, adapted housing, social care, benefits, travel, to finding a PA etc we developed a working group of individuals with OI to initially discuss and determine what areas we should cover as priority.
The Brittle Bone Society recognised the lack of research available around the needs for adults with OI to live independently and therefore as part of this project created a survey, which was carried out in March and April 2021. The resulted looked at identifying the main gaps in support services for adults living in the UK and Ireland and also assessed what resources the BBS could develop to assist individuals to live more independently.
Thanks to the Centre for Rare Conditions in Glasgow for analysing the results.
The full report can be viewed here: Independent Living Survey Report .
The Appendix to the report can be viewed here: Appendix to Report.
Below are some highlights from the responses.
The Independent Living Working Group along with Occupational Therapists have worked towards pulling useful information together. These resources will be available soon.
Dr Judith Bubbear of the Royal National Orthopaedic Hospital – The Therapy needs for adults living with OI.
People with OI experience recurrent fractures; however they are also more likely to have other musculoskeletal issues such as dislocated joints, tendon and ligament injuries compared to the general population. This has been raised as a key concern by adults with OI, but there is no evidence on prevalence of musculoskeletal complaints and how therapy might best be organised for them. This study is aiming to quantify and describe the types of soft-tissue problems adults with OI suffer with and what adults with OI perceive the problems to be. We hope this will be able to inform service departments.
Dr Antonella Forlino of the Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Italy – Development of a novel combined anabolic and anti-catabolic bone specific drug to treat OI.
No definitive cure is available for OI and novel therapies are an urgent patients’ need. In the last decade, it became clear that the skeletal deformity and fragility associated to reduce bone mineral density, typical features of the disease, are not only due to the abnormal type 1 collagen in the bone matrix. The compromised function of bone forming cells, caused by intracellular retention of the mutant protein, is also contributing to OI severity. Thus, targeting simultaneously the cellular compartments and the bone matrix seems promising. We aim to develop and in vivo test a new drug that will combine the stimulation of osteoblasts protein secretion to the bone resorption reduction by conjugating the chaperone 4-phenylbutyrate to the alendronate.
Dr Meena Balasubramanian of Sheffield Childrens NHS Foundation Trust – assessing the balance of cost and determining the experience of families in Paediatric Osteogenesis Imperfecta Healthcare (ABCD Study).
Most patients with OI go through a prolonged patient journey before diagnosis is confirmed and appropriate treatment is instituted. The ABCD Study is designed to assess the healthcare needs for children with OI and how early diagnosis impacts their patient journey and healthcare costs.
For further information about this study you can download the report HERE.
Dr Alex Ireland, a Lecturer in physiology at Manchester Metropolitan University – Physical Function and soft-tissue health in individuals with OI.
This project is researching how the size and function of muscle and tendons in adults with OI are affected by the disease. The information could help understand health problems related to OI including tiredness, reduced mobility and dislocations.
If you are interested in taking part in the study you can find out how to participate HERE
You can read the article in relation to the initial findings of the study HERE