Interview with Moira Cheung, Paediatric endocrinologist, MD, PhD, United Kingdom

Who are you and what is your relationship to OI?

Hello! I am delighted to be part of the OIFE. My name is Moira Cheung and I am a paediatric endocrinologist and rare bone specialist at Great Ormond Street Hospital (GOSH) in London, UK. I look after lots of families where the children are affected with all types of rare bone diseases. OI has a special place in my heart as OI is where I really learnt about bones, how to research rare diseases and most importantly how to take a holistic approach to managing OI. I trained in Montreal nearly 20 years ago under my mentors Francis Glorieux and Frank Rauch and I feel so lucky to have been trained by a couple of the world’s best experts in OI.

Tell us about your past and current work related to OI!

In the past I spent two years at the Shriners Hospital in Montreal looking after a large cohort of osteogenesis imperfecta. I set up the bone service at Guys and St Thomas’ Hospital in London and worked with some of the patients with OI there and then I moved to Great Ormond Street and am currently one of the consultants who look after around 300 patients with OI.

Are you involved in research? How?

Working in rare diseases, I think it is my responsibility to take an active part in research. I was very involved in the Montreal program when I did my fellowship many years ago and published extensively on OI, in particular type V. I undertook a basic science PhD looking at the effect on bones of the thyroid and oestrogen hormones in transgenic animal models.

Recently I have been looking at different ways to predict fractures in OI and we have put an abstract into OI conference in Hong Kong this year, assessing the utility of hand X-rays in assessing bone fragility. I am also working on some exciting translational collaborations with the basic science groups at UCL. I can’t tell you too much about that side of things yet, but hopefully you might see the fruit of our work in the next 5 years?

I am the chief investigator in a few clinical trials in some rare bone conditions, and I have been advising some of the pharmaceutical companies on some of the exciting new products coming out. I think it’s really important that the clinical teams partner with industry to ensure they are addressing the needs of our patients.

Do you belong to any networks/scientific societies?

In the rare disease space, I am a committee member of the skeletal dysplasia group, the skeletal dysplasia management consortium. I set up the UK achondroplasia network and I regularly organise workshops at the International Conference of Children’s Bone Health (ISCBH).

How is treatment and care for children and adults with OI organized in your country?

In the UK, the diagnosis is made often in the general paediatric setting. Referrals will then be made to specialist centres. There are 4 centres for complex and severe types of OI. They receive holistic care and are seen by the occupational and physiotherapists as well as the doctors.
We also have a psychologist who helps run workshops as well as see the families as and when needed. We will see most patients between 6-12 months depending on the needs of the patients.

The orthopaedic and spinal teams work closely with the medical teams, and we hold joint clinics. There is also a network of local hospitals who support the patients in between visits. We have close contact with them and the families especially through our specialist nurse. When the young people get older, we transition them to an adult team who specialises in OI. We see them together initially until they are ready to be seen independently by the adult team.

There are no national guidelines for OI currently in the UK. But the 4 centres will come together annually to discuss projects, research and how management can be optimised.

Are you working with the national OI-organization in your country?

The Brittle Bone Society in the UK plays a very important role in advocating for our families. They work closely with the doctors and also help fundraise for research projects.

What is the most important role of OIFE compared to the national OI-organizations?

OIFE is very important to bring together expertise across Europe. It is important that as doctors, we work closely with patient organisations, to let us know where their needs are, and also so we can communicate the families what is happening in the medical world.

The difference between OIFE and the national organisations, I would say, is the role in research and communication. OI is a rare disorder and especially for the ultra-rare conditions it is important to work across national boundaries to be able to both better understand condition and to help find treatments for them.

OIFE is also a way via which medical teams with more experience can support other countries where there is not so much expertise.

What are the biggest knowledge gaps in OI? And how can we fill them?

I think we need to understand more about the rare types and develop better treatments for all types of OI.

What do you do in your spare time?

I have three children who keep me busy, but I love being a mum.

In my spare time I enjoy travelling and cooking. In the photo you see me and my mentor – professor Glorieux.

This article has first been published in OIFE Magazine 2025-03.