About the “Breathing Muscle Strength in Healthy Children” Study at Brunel University London

Brunel University London is involved in an exciting research project investigating gene therapy for young children affected by X-linked Myotubular Myopathy (XLMTM). The gene therapy programme, funded by Audentes Therapeutics, is showing very positive early results, with large improvements in muscle function in those children who have received the treatment (Audentes Press Release). Breathing muscle strength is an important outcome being measured in the gene therapy study. There has however been very little research in the past into what constitutes ‘normal’ breathing muscle strength in children under the age of six.

This research project will therefore measure breathing muscle strength in a group of young children with no health problems, so that we have an accurate reference point when considering the results from the XLMTM gene therapy trial. As gene therapy offers great promise for a number of serious muscle conditions, the results from this study will also be of use in other research projects in the future. The study will also give us a greater understanding of how the breathing muscles develop and mature in the first few years of life.

Please follow the link below to find out how you can get involved and take part if you have a child under 6 years, with no health problems.  Or, feel free to invite the children of a relative, friend, colleague or neighbour (with no health problems) to join the Study?  https://www.brunel.ac.uk/research/Projects/Breathing-muscle-strength-in-healthy-children

Alternatively, please contact the research team at Brunel University by email emily.knight@brunel.ac.uk or call on 01895 268142

Interview with Dr Vicky MacBean, Principal Investigator at Brunel University London

Dr Vicky MacBean PHD MCSP, Principal Investigator for the Study

How did you get into physiotherapy?
A lot of my family worked in the healthcare professions – my grandfather and great uncle were medics, my grandmother and aunt were nurses, my mum was a radiographer – so when I was thinking about career options it seemed a natural area to consider. I was lucky enough through my school to be offered the opportunity to volunteer on a British Red Cross residential respite care holiday scheme for children with disabilities. From there I developed links with a special needs school (https://stroses.org.uk/ – one of the oldest in the country) and then went on to undertake work experience with physios both in the school and in other local clinics and hospitals. Once I’d done that there was no doubt that physiotherapy was the profession for me.

What inspired you to specialise in respiratory physiotherapy?
It was just a natural progression as I went through the early stages of my career. I had a couple of really good clinical placements in the respiratory field while at university, and then once I qualified I found that I enjoyed the fast-paced nature of respiratory and intensive care physiotherapy. Maybe it’s because I’m an impatient sort of person – I like to see quick results so rehabilitation suits me less well! That’s one of the reasons I like paediatrics as well – you tend to see quicker changes than in adult medicine.

What’s your typical day like?
I work as a lecturer at Brunel University London, so I no longer have direct clinical contact with patients (which I still miss, even after ten years in full-time research). My role involves teaching physiotherapy students, mainly on our critical care and research modules, as well as helping run one of our masters programmes for qualified physios. So on any given day I might be preparing lectures, giving tutorials, marking essays, meeting with my personal tutees, or working on the research side of my job – planning projects, writing research papers, or collecting data. Two days a week I work on the Audentes programme, which I tend to do from home with the dog snoring beside me on the sofa.

How did you become aware of the Audentes gene therapy programme and how did you get involved?
My former boss at King’s College London was approached to advise on the early stages of the clinical programme. Once the study was closer to starting it became clear that the sites were going to need additional support to collect the respiratory muscle strength data – as very few people make these measurements in young children there are no nice easy automated systems available for use! My role then developed to visit the sites and train the physios and respiratory therapists on the techniques, and to analyse the data files they produce from the testing.

What measurements do you train study staff to carry out?
I train the site staff in the respiratory muscle testing measurements – these allow us to see how strong the muscles are that control breathing. The tests aren’t always the easiest for the children (or parents, or staff) so I do my best to approach things gently but I’m always really impressed with the resilience of the MTM children and families when participating in these quite arduous study visits. As a respiratory physio I’m used to being a little unpopular due to the things I ask of people!

How do you see this trial in healthy children helping our XLMTM children?
This study in healthy children will be really helpful in our understanding of the data we collect from the MTM children in the study. At the moment our knowledge of what counts as ‘normal’ respiratory muscle strength is quite limited as there have been very few previous studies. The data we will generate will allow us to understand more clearly the amount of improvement we see in the gene therapy programme, and to know how close to ‘normal’ strength the MTM children are after treatment.

How else do you recruit patients for the healthy children breathing study? (And can you tell us about your own special patient candidate!?)
We are advertising via posters and social media around the area local to Brunel, as well as via word of mouth through colleagues and friends. My commitment to the study even extends as far as having got pregnant so that I can offer up a volunteer – Little Bean will be arriving into the world in November and will be taking part a couple of months later!

Can siblings or friends of affected children get involved?
Absolutely! Nobody understands the importance of research like this better than those with a direct link to the MTM community so we’d be delighted to hear from parents of healthy children who would be interested in taking part. We’d also be grateful if people would consider mentioning the study to their friends, family, neighbours, colleagues – the more the merrier.