European project for the diagnosis of rare systemic autoinflammatory diseases started in Belgium

12 January 2021

In December 2020 a new clinical trial was launched at UZ Leuven. The trial is part of the ImmunAID-project, which wants to discover new tools for the diagnosis of systemic autoinflammatory diseases (SAID). SAID are a complex and growing group of rare diseases, characterised by an explicit clinical and biological inflammation. They are caused by a dsiruption of the congenital immune system. This causes the release of immune cells and mediators which in turn can cause fever, tissue and organ inflammation as well as organ damage.

Sometimes it is difficult for doctors to correctly diagnose SAID. The most important symptoms (such as fever, rash or muscular pains) also occur in numerous other disorders. This can result in a patient receiving an average of five unsuitable or ineffective treatments before a correct diagnosis is determined. This has a big impact on the patients' health and quality of life.

The objective of ImmunAID is to understand the mechanisms that drive these rare but potentially devastating diseases so that patients can get a correct diagnosis quicker and better care.

An unseen amount of clinical and biological data

Some SAID are caused by specific genetic mutations. In addition there is a great number of disorders that can only be traced based on a number of clinical symptoms and after other diagnoses have been eliminated.

The objective of the new project is finding new and more effective ways of diagnosing SAID. The team expects to find a set of biological characteristics that all SAID have in common. Dat zal ervoor zorgen dat een vermoeden van een auto-inflammatoir syndroom snel bevestigd of verworpen kan worden. Daarnaast zal voor elke SAID een lijst van karakteristieke biomarkers en een algoritme worden gegenereerd. Zo kan de arts een gepaste specifieke diagnose stellen.

Seeing as SAID are rare diseases, a large group of patients with different SAID will be recruited from all over Europe. UZ Leuven wants to allow as many Belgian patients as possible to participate to the trial.

To realis the project's objectives, the patients' biological samples will be analysed in a European research network with various state-of-the-art technologies. This will ensure a unseen large amount of data (genetic information in cells, generated RNA messenger molecules, protein profiles and gut flora). At the same time other analyses will focus on immunocells, molecular mechanisms and specific messenger molecules of the immune system (cytokines etc.). All generated data will be subjected to artificial intelligence.

Prof. Carine Wouters, paediatric rheumatologist at UZ Leuven, is fully convinced of the success of the project: “We are happy and proud to be collaborating with the ImmunAID partners. This is a unique chance for European scientists to go forward in the research of an important field of rare diseases, which can only be tackled on a large scale. We will do our best to deliver meaningful results that will improve patients' diagnosis and medical care.”

Leuven team at the frontline of the project

The Leuven teams will be at the frontline of the project and will take various steps. Firstly the team of professor Carine Wouters and professor Steven Vanderschueren will be responsible for recruiting patients suffering from monogenetic SSAID (FMF, CAPS, TRAPS, MKD) or non-genetically diagnosed SAID (Still’s disease, neutrophilic dermatosis, Schnitzler's syndrome, an Takayasu disease, Kawasaki syndrome, Behçet's disease, chronic osteitis, returning pericarditis and chronic systemic inflammation with an unknown cause).

Secondly professor Wouters, professor Patrick Matthys and professor Paul Proost of the Rega Institute and the KU Leuven Microbiology, Immunology and Transplantation department will be involved in the biochemical and biological analysis of the samples. On the one hand, the teams of Carine Wouters and Patrick Matthys will be using their extenisive knowledge of ‘Natural Killer’-cells (cytotoxic cells of the congenital immune system) to identify and characterise these cell's potentially changing activity in SAID patients. On the other, the team of Paul Proost will study whether changes of the immune system's messengers (cytokines and chemokines) play a role in the regulation of the inflammation process. And finally, the team of professor Stephanie Humblet-Baron and professor Adrian Liston will thoroughly research the immunocellular compartiment of the blood of patients, in addition to genetic research into finding new genes that are responsible for SAID.

By combining the various examinations the project will gain insight in the mechanisms that trigger the autoinflammatory process' deviating behaviour. The results will put together with the complementary analyses of other European research labs to help identify biomarkers and potential treatments for these disorders.

About the ImmunAID project

ImmunAID is a research project (www.immunaid.eu), which aims to find a set of disease-specific biomarkers to confirm the diagnosis of SAID. ImmunAID is being executed by a large consortium of physicians and researchers (25 partners in 12 European countries) and is financed by a European Commission grant of 15.8 million euro. The ImmunAID-project has received financing from the European Union's ‘Horizon 2020 research and innovation programme’ under Grant Agreement No. 779295.

About the Leuven team

The Leuven clinical and research groups have set up a long-term collaboration for translational research in immuno-inflammatory diseases. More information about the Ped IMID fund: www.kuleuven.be/mecenaat/fondsen/geneeskunde/ped-imid-fund.

Last edit: 22 January 2021