Getting the balance right for data sharing in autoimmune conditions

Dr Mark Little is linking data from patients with a rare disease called ANCA vasculitis in projects designed to help people with autoimmune conditions and to provide a model for dealing with patient data. He talks to Dr Claire O'Connell ...

Dr Mark Little

You often get a sense when you are about to fall ill: it might be the first sniffles of a cold, or the ‘aura’ of a migraine that gives you a heads up. But what if you had a condition that flared up from time to time without warning, causing sickness and organ damage? Understanding how to anticipate your flares could help you prepare for them, or maybe even lessen them with medications.

That’s why Dr Mark Little is figuring out the triggers and early signs of a rare disease called ANCA vasculitis and personalise treatment, so that patients get fewer side effects but can still manage the symptoms.

‘In ANCA vasculitis, the immune system attacks organs, including the kidneys and lungs, and the person generally has times when they don’t have symptoms before suffering a flare out of the blue’, explains Mark, who is Professor of Nephrology and Consultant Nephrologist at Trinity College Dublin and Tallaght and Beaumont Hospitals.

While ANCA vasculitis is relatively rare – about 1,000 people in Ireland have the disease – it shares the ‘come and go’ pattern with other, more common autoimmune diseases such as rheumatoid arthritis.

‘We often need to treat these autoimmune diseases with drugs that suppress the immune system’, says Mark. ‘That means the person can be more prone to infections, so you want to get the balancing act right, so the person gets the medicines in a way that controls the condition but isn’t too toxic’.

Early signals

With funding from the Health Research Board (HRB), Mark’s group at Trinity recently identified a ‘biomarker’ or signal (soluble CD163) in the urine of patients that signals active disease in the kidney, and this non-invasive test should soon be helping clinicians to monitor patients at risk of kidney damage, including those with ANCA vasculitis.

‘On the back of this work a company in Germany has made a clinical grade test to easily measure the levels of this biomarker in the urine, which will be launched globally very soon’, explains Mark. ‘It means we can tell when there is kidney damage without the need to do a kidney biopsy – we can track this biomarker in urine samples instead’.

To build up a more thorough picture of the symptoms and signs of patients in ANCA vasculitis, Mark has also led a project called AVERT [], funded  by the HRB, the Medical Research Charity Group and in association with the Irish Nephrology Society. It aims to figure out the external factors and internal signals that are linked to flares in patients.

‘We built an app in collaboration with a local SME called patientMpower so that patients could record things like how tired they feel, maybe they have a rash, and where they have been, so we can examine weather patterns or pollution or infections that they may have been exposed to’, explains Mark. ‘The app means the patients can feed back on things that really matter to them, like pain and fatigue’.

As a result of the AVERT project Mark and his team are now feeding into a new, larger piece of research called HELICAL: Health data linkage for clinical benefit []. That project, which received €4.05m from the EU’s Horizon2020 MSCA programme, expands the search for ANCA vasculitis triggers, explains Mark. The project itself was ranked joint first among 1,714 applications. ‘The HELICAL project involves 23 partners around Europe and will also look at aspects in ANCA vasculitis patients such as genetics and the levels of various proteins, and we can examine the data in the context of what the patients are telling us through the app’.

Data challenge

The project is also building a model to handle and analyse patient data in a way that complies with new data protection regulations in Europe. ‘Being able to link datasets is really important for getting insights from these projects where we are looking at different types of information from patients’, Mark explains. ‘Being part of the HELICAL project puts Trinity at the heart of a European conversation about the re-use of health data and artificial intelligence at the dawn of the GDPR era. We are lucky to be working with a leader in this space, the European Institute for Innovation through Health Data, to progress this’.

Diving in

Through the challenges of research, what keeps Mark going is asking interesting questions in his work and that the answers could have direct impact on the lives of patients. He also enjoys spending time with his family – two young kids makes for a busy home life – and SCUBA diving when he gets the chance. ‘I am a warm-water diver, so I enjoy going to new sites’, he says. ‘Later this year I hope to dive at the Galápagos Islands’.