Physical Function & Soft Tissue Health in OI

Interview with Dr. Alex Ireland and Dr. Sergio Orlando

Who are you and what is your relationship to OI?

My name is Dr Alex Ireland, Senior Lecturer in Physiology at Manchester Metropolitan University, UK. My research has previously focused on how the shape and structures of our bones and joints is affected by physical activity and disuse throughout life. I also examine factors which affect the size and strength of our muscles, as muscles are very important for maintaining bone and joint health. I became interested in OI, because there seemed to be little information on how muscle and movement was affected particularly in adults.

My name is Dr Giorgio Orlando, Research Associate at Manchester Metropolitan University working with Alex. During my PhD, I carried out research into the effects of diabetes on muscles. Currently, I am working on the impact of OI (type I) on muscle, bone, and tendon health. During this time, I have become particularly passionate about this topic and have understood that my research activity must be centred on helping people affected by this severely debilitating condition.

Can you tell us about your research project?

We know that OI affects bones, but soft tissues (muscle/tendons/ligaments) also contain a high proportion of the type of collagen affected by OI. Many people with OI also report clinical problems with soft tissues such as joint hypermobility, dislocations and muscle or tendon injuries. Muscle/tendon weakness could also lead to impaired balance and mobility, which affects daily living and contributes to fall and fracture risk. Studies by Prof Frank Rauch and colleagues in Montreal have shown that children with OI tend to have smaller, weaker muscles and be less physically active. However, there are no studies describing muscle or tendon health or physical function (balance, mobility, etc.) in adults with OI of any type.

Our research project aims to examine the size and function of muscles and tendons in young adults with OI type I. This work is being completed in collaboration with Prof Peter Selby from Manchester Royal Infirmary. We are still recruiting young adults aged 18-35 with osteogenesis imperfecta type I, this will involve a 2-hour visit to our central Manchester laboratory for which travel expenses will be covered. If you appear eligible for this study and would like to participate, please click the link above for further details.

In addition, we are using some existing questionnaire data from the RUDY Study to find out how mobility and other activities of daily living differ in people with different types of OI, and how that impacts on their lives. We are collaborating with Dr Kassim Javaid from the University of Oxford on this work. For individuals in the UK with OI, you can sign up via the link above to take part in the study, which investigates different aspects of health and function in people with OI and other rare conditions through questionnaires.

How is the project financed?

The project has been supported by a Research Grant from the Brittle Bone Society (BBS), a charity supporting people in the UK and Republic Ireland with OI and their families. Additional support has been provided by our university.

Do you have patient involvement in your project?

The BBS have been very supportive throughout this project. We attended their Family Conference to discuss our project, and got some very helpful and supportive feedback from individuals with OI and their families. We also discussed the project with medical colleagues with experience of working with individuals with OI at the BBS Annual Scientific Symposium, which also gave us encouragement and some helpful suggestions.

Do you have a message for the readers of OIFE Magazine?

As researchers new to working in OI, we have been very grateful for the support and encouragement for our work both from individuals and organisations within the OI community. We are keen to develop this initial work to encompass adults of different ages and OI types in future projects, and we will keep you posted!

From panel discussion at OIFE’s topical meeting Soft Tissues & Soft Issues in 2015.
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