Test points to precision treatment for autoimmune condition

An ultrasensitive blood test could detect a common, yet often overlooked, autoimmune condition over a decade before diagnosis, a study shows.

Female scientist pipetting liquid in the lab

Over half of patients with Sjögren’s disease – when the immune system mistakenly attacks the body’s moisture-producing glands – have chronically high levels of an inflammatory protein called interferon alpha (IFN-α), identifiable long before symptoms develop.

Pinpointing the involvement of IFN-α could help doctors target the right treatment to the right patient, improving management of the condition, experts say. 

Overlooked condition

Sjögren’s disease affects around half a million people in the UK. 90 per cent of adults diagnosed with the condition are women. 

The disease affects the exocrine glands – which make and release substances like tears and saliva – and other organs, causing chronic inflammation and preventing them from working properly. 

There is currently no cure, so treatment focuses on managing symptoms, which can include dry eyes and mouth, joint pain and extreme tiredness.

Sensitive test

Scientists from the University of Edinburgh and University Bonn in Germany studied the immune system of over 170 women and men with Sjögren’s disease. The body normally only produces IFN-α in tiny quantities, so researchers used a new, ultra-sensitive method to detect individual molecules.

Around 60 per cent of patients had an increased amount of IFN-α. This was linked to different activity levels of certain genes involved in the immune system, leading to a unique fingerprint of proteins in the blood of this group of patients.

Researchers extended their findings using data from the blood samples of 250 patients diagnosed with Sjögren’s disease in the UK Biobank. Analysis of the samples showed that IFN-α fingerprints could be detected in blood more than ten years before patients developed the disease.

The research team were also able to show that mice which produce high levels of IFN-α developed features of Sjögren’s disease, and responded to a drug which blocked the biological effects of IFN-α. 

Two pathways

The findings suggest that there are two distinct pathways linked to the development of Sjögren’s disease. This so-called immune diversity could support the use of treatments to suppress IFN-α specifically for patients with high levels of the protein, experts say. 

It could also offer a route for the development of potential new treatments among this subset of patients, as well as predicting disease, they add.

Sjögren’s disease is a debilitating condition which is often overlooked. We are delighted to have shown how precision medicine technologies can be used in Sjögren’s disease to help decode the immune pathways which cause disease. We hope that this is an important step towards making our ultrasensitive IFN-α blood test available to people affected by this condition.

Personalised treatment

The study, funded by the Chief Scientist Office and Wellcome, is published in the journal The Lancet Rheumatology. The research team also included scientists from Newcastle University and University Hospital Dresden.

Now, for the first time, we can take treatments geared toward suppressing the interferon effect and trial them specifically on patients with elevated interferon levels. We might also find new approaches to treatment that will help a large percentage of patients over the long term.

Our Precision Medicine Alliance Scotland (PMAS) funding aims to bring precision medicine from the laboratory into everyday NHS Scotland care, and this research is a vital step towards more personalised treatment for people with Sjögren’s disease.

The technology underpinning the research mirrors the approach by our flagship Precision MS programme. It really demonstrates the ripple effect of investing in research and the connectivity across our sector which helps translate advances in one disease area into benefits for another.

Related links

Read the study in full

Institute for Neuroscience and Cardiovascular Research

Image credit: Peter Muller via Getty Images

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