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.

NHS Costs

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 rudy@ndorms.ox.ac.uk.

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  can be found here.

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 aim was 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.

This study was a cross-sectional analysis of outpatients with Osteogenesis Imperfecta.  Adults attending a newly established multidisciplinary clinic at a tertiary centre in 2019 were included. A highly specialist physiotherapist worked within the clinic to offer therapy input if required and to refer patients to appropriate therapy as needed. People over the age of 18 were included if they had a diagnosis of Osteogenesis Imperfecta.

The analysis highlighted the high prevalence of MSK pain in adults with OI and the effect on physical function and emotional wellbeing. The study demonstrates the diverse needs of the adult Osteogenesis Imperfecta population and the need for suitable multidisciplinary therapy services.

The full paper can be read here.

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.

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.

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

Brittle bone disease also referred to as Osteogenesis Imperfecta (OI) is the commonest genetic condition that results in fractures.  Intelligence in OI is reported to be normal. With large scale genetic studies, we are increasingly aware of other genetic conditions where individuals can present with unexplained fractures with a background of intellectual disability and/or seizures.  The question remains why these individuals develop fractures and what is the underlying cause of this. Through this research project, we want to better understand why bone health is affected in these genetic conditions and how we should look after these individuals. This will also help understand better bone genetics and what factors influence bone health.

This project has been funded by the Brittle Bone Society and is carried out by researchers at the University of Sheffield, led by Dr Meena Balasubramanian.

THIS SURVEY IS NOW CLOSED

Dental concerns are common in individuals living with OI, and up to 50%, depending on type, are thought to have Dentinogenesis Imperfecta (DI).

There is limited evidence regarding the standard of care individuals in the UK receive.  To investigate current issues and care experiences from the perspective of those living with OI, the Brittle Bone Society (BBS) distributed a survey in the UK and Ireland. The survey was created in conjunction with the Medical and Scientific Advisory Boards and individuals with the condition. It was distributed via the BBS social media platforms during Feb 2023.

The survey explores 3 main themes looking at dental problems,  dental concerns and accessing care both in the community and within dental hospitals.

You can view the key findings of the dental survey on our below info-graphic:

Patient-reported experience of clinical care of osteogenesis imperfecta (OI) during the COVID-19 pandemic

The Brittle Bone Society surveyed our members during August and September 2020 to find out about individuals experiences during lockdown. We carried out a follow up Survey again throughout March and April 2021.  The surveys included questions about cancelled/postponed appointments, experiences of digital consultations,  impact on mental health and wellbeing, and experience of shielding and receiving the vaccine.

We would like to thank all individuals who took time to respond to the survey’s. We received 107 responses to the first survey and 124 for the second.

We would also like to thank the Centre for Rare Conditions in Glasgow who worked with us to analyse the data, and all other contributors who made it possible to get the paper published.

The full Published Paper can be downloaded here.

An overview of the results can be seen in this Covid-Poster.

Initial analysis from the 2021 Survey

Analysis from the 2020 Survey

Professor F Ahmed and Dr C McDonnell provided a talk with preliminary findings during our Virtual Conference which you can view on our youtube channel.

The results will help us to improve our charities resources, as well as feedback to Policy makers and Healthcare professionals on what has worked well, what could be done differently and what we should be looking at for the future.

Researchers at McGill University are seeking expertise from individuals who are affected by Osteogenesis Imperfecta.

Study funded by Brittle Bone Society (BBS)

They are looking to produce a cartoon called the “Hospital of No Surprises” with children with osteogenesis imperfecta, their siblings  and others to help them prepare for surgery.  The aim is to promote the stronger recognition of the voices of children affected by osteogenesis imperfecta and improve their hospital experiences. The research team need your help! Meet online with a member of the research team to learn about how you can participate in this study.

Expert advice needed to understand the good and bad hospital experiences of children affected by OI

Are you under 18 years of age and have OI? Do you have a sibling with OI?

Eligibility:

1. a) You are between 4 to 18 years of age; AND
2. b) You have OI or a sibling with OI

OR

Do you have a child with OI or have OI yourself? Are you involved in the OI community or provide care to children with OI? Are you over 18 years of age?

Understand the health care experiences and needs of children affected by OI &

Participate in the creation of health care resources for children affected by OI

Eligibility:

1. a) You have been providing care to a child/children with any type of OI for at least one year; OR
2. b) You are a former child OI patient; OR
3. c) You are a representative of the OI community (e.g., foundations, community leaders); AND
4. d) You are aged 18 or over.

Exclusion Criteria

Not being able to speak English or French

For more information, please contact

Jenny Wang, RN, M.Ed

Research Assistant, McGill University

E-mail: yi.wen.wang@mail.mcgill.ca

Principal Investigator:

Argerie Tsimicalis, RN, PhD

Assistant Professor, McGill University

Email: Argerie.tsimicalis@mcgill.ca