The european ImmunAID project starts its clinical phase

The ImmunAID project aims to develop new diagnostic signatures for systemic auto-inflammatory diseases (SAID). Ultimately, the aim is to offer better care for these rare disease patients. Systemic auto-inflammatory diseases (SAID) are a complex and poorly understood group of rare diseases.

Characterised by strong inflammation, these diseases are caused by a deregulation of the innate immune system. As the main symptoms (fever, rash, joint pain, etc.) are also involved in many other conditions, it is very difficult for the doctor to make the right diagnosis. A patient thus receives on average up to 5 inadequate or ineffective treatments before being correctly diagnosed. This medical wandering has a serious impact on the quality of life of patients.

To reach these objectives, a pan-European cohort is being setup. The recruitment campaign was recently launched in France and is now being opened in Spain, with one centre in Barcelona at SJD Barcelona Children's Hospital (Pr. Jordi Anton) and one at the Ramon y Cajal Hospital (Pr. A. Boteanu). Other centres across Europe will follow. In total, about 1,000 patients will be recruited.

An unprecedent set of clinical and biological data in the field of SAID

While it is already known that some SAID are due to specific genetic mutations, other forms can only be detected by a set of clinical signs and after other diagnostic possibilities have been exhausted.

The ImmunAID cohort represents a considerable asset for researchers looking for biological signs, or biomarkers, specific to BUTs.

The biological samples collected will be analyzed in depth by a host of state-of-the-art instruments and will generate an unprecedented amount of "omics" data (gene, RNA, protein, microbiome). In parallel, additional analyses will target molecular mechanisms already suspected such as the inflammasome, lipid mediators and other actors of the immune system (cytokine, etc.). The data thus generated, a true "immunome" of the SAID, will be subjected to analyses derived from machine learning and modelling. The expected results? A signature common to all the SAID, allowing the auto-inflammatory syndrome to be quickly confirmed or refuted. But also, for each SAID, a list of characteristic biomarkers and the algorithm allowing the doctor to carry out his diagnostic evaluation.

Prof. Anton enthusiastically sums up the whole project: "ImmunAID is a unique opportunity for the European scientific community to advance research in a field where there is a great deal of medical wandering. We hope that the project will quickly help to provide better care for our patients. "

About the ImmunAID project

ImmunAID is a research project, which aims at identifying a set of disease-defining biomarkers, able to confirm the diagnosis of SAID. It will also provide an expert algorithm to help fine-tuning the disease profile and further adjust prognosis and treatment protocols. Samples from patients from all over Europe will be analysed using various biological techniques with both unbiased (multi-omics) and hypothesis-driven (supposed mechanisms) approaches. Results will further be integrated and classified following artificial intelligence methodologies to deliver a new categorization of SAID. ImmunAID is run by a large (25 partners, 12 countries) consortium across Europe and is endowed by the European Commission with 15.8 million euros.

The ImmunAID project has received funding from the European Union's Horizon 2020 research and innovation programme, under grant agreement No. 779295.