Mise à jour le   16/07/2021

Molecular Reclassification to Find Clinically Useful Biomarkers for SADs



Funding body: Innovative Medicines Initiatives (IMI), FP7, EC/EFPIA
Dates: 2014-2019
Coordinator: UCB Pharma
Consortium: 28 partners, 12 countries
Overall budget: €22.7 million
LBAI specific budget: € 834,400

The challenge:

Systemic autoimmune diseases (SADs) as they are known today are a group of chronic inflammatory conditions with autoimmune aetiology with few treatment options and difficult diagnosis. Their major common feature is the presence of unspecific autoantibodies in serum. Three diseases primarily represent the SADs: systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and systemic sclerosis (SSc). Several other entities and syndromes have extensive clinical overlap with these, where mixed connective tissue disease (MCTD), Sjögren’s syndrome (SS) and the primary antiphospholipid antibody syndrome (PAPS) are very relevant examples. While as separate clinical entities each of these diseases is rare, together they make up to close to 1% of the general population. In addition, there are individuals who do not fulfil the clinical criteria or who do not share all the features of a given clinical entity and live for years as “undifferentiated cases”. These diseases are the focus of our attention.

The objectives:

The goal of this project was to use of the power of OMICs (genomics, transcroptomics epigenetics, metabolomics, proteomics), and bioinformatics to identify new classifications for diseases known to share common pathophysiological mechanisms. Such knowledge has not been applied to individual patients, depriving them from potential benefits in terms of the use of new therapeutic agents that are being developed for one disease but cannot be applied in another, due to current clinical classifications. Our main hypothesis was that the identification of specific molecular signatures in patients with the SADs will enable clinicians to tailor therapies according to the specific pathways to be targeted in individual cases. In short, to implement precision medicine strategies.

Expected results:
The "omics" approaches associated with integrative bioinformatics should enable: the identification of biomarkers for clinical use (diagnosis, prognosis, response to treatments), the identification of groups of biomarkers that characterise groups of patients (clustering), a classification of AID based on relevant clinical biomarkers, the improvement of scientific knowledge on the existing interconnections between AID, the development of a protocol for the individualised management of patients suffering from AID.
In conclusion, the aspects of this innovative and ambitious project will contribute to increase the probability of success in developing new treatments and proposing new therapeutic options in autoimmunity.

LBAI involvement:

The UMR1227 was involved in several work packages (WP) : WP1 “Coordination”, WP2 “Sample Collection and Biobanking”, WP3 “Clinical Data Management”, WP5 “Flow Cytometric Analysis and Cellular Separations from blood of patients with SADS and pre-clinical models” (WP leader: J.O. Pers), WP6 “Proteomics, Metabolomics and Serology of SADS”, WP8 “Data Analysis- Bioinformatics and Biostatistics” and WP9 “Knowledge Dissemination and Training”. Jacques-Olivier Pers was a member of the Steering Committee.




Barturen G, Babaei S, Català-Moll F, Martínez-Bueno M, Makowska Z, Martorell-Marugán J, Carmona-Sáez P, Toro-Domínguez D, Carnero-Montoro E, Teruel M, Kerick M, Acosta-Herrera M, Le Lann L, Jamin C, Rodríguez-Ubreva J, García-Gómez A, Kageyama J, Buttgereit A, Hayat S, Mueller J, Lesche R, Hernandez-Fuentes M, Juarez M, Rowley T, White I, Marañón C, Gomes Anjos T, Varela N, Aguilar-Quesada R, Garrancho FJ, López-Berrio A, Rodriguez Maresca M, Navarro-Linares H, Almeida I, Azevedo N, Brandão M, Campar A, Faria R, Farinha F, Marinho A, Neves E, Tavares A, Vasconcelos C, Trombetta E, Montanelli G, Vigone B, Alvarez-Errico D, Li T, Blanco Alonso R, Corrales Martínez A, Genre F, López Mejías R, Gonzalez-Gay MA, Remuzgo S, Ubilla Garcia B, Cervera R, Espinosa G, Rodríguez-Pintó I, De Langhe E, Cremer J, Lories R, Belz D, Hunzelmann N, Baerlecken N, Kniesch K, Witte T, Lehner M, Stummvoll G, Zauner M, Aguirre-Zamorano MA, Barbarroja N, Castro-Villegas MC, Collantes-Estevez E, de Ramon E, Díaz Quintero I, Escudero-Contreras A, Fernández Roldán MC, Jiménez Gómez Y, Jiménez Moleón I, Lopez-Pedrera R, Ortega-Castro R, Ortego N, Raya E, Artusi C, Gerosa M, Luigi Meroni P, Schioppo T, De Groof A, Ducreux J, Lauwerys B, Maudoux AL, Cornec D, Devauchelle-Pensec V, Jousse-Joulin S, Jouve PE, Rouvière B, Saraux A, Simon Q, Alvarez M, Chizzolini C, Dufour A, Wynar D, Balog A, Bocskai M, Deák M, Dulic S, Kádár G, Kovács L, Cheng Q, Gerl V, Hiepe F, Khodadadi L, Thiel S, de Rinaldis E, Rao S, Benschop RJ, Chamberlain C, Dow ER, Ioannou Y, Laigle L, Marovac J, Wojcik J, Renaudineau Y, Borghi MO, Frostegård J, Martín J, Beretta L, Ballestar E, McDonald F, Pers JO, Alarcón-Riquelme ME. Integrative Analysis Reveals a Molecular Stratification of Systemic Autoimmune Diseases. Arthritis Rheumatol. 2020 Dec 8. doi: 10.1002/art.41610. Epub ahead of print. PMID: 33497037.

Presentation of the project by Prof. Jacques-Olivier Pers during a meeting of  the Académie Nationale de Médecine, Brest, 2 June 2015



PRECISESADS received the support from the Innovative Medicines Initiative Joint Undertaking under GA n°115565, resources of which are composed of financial contribution from the European Union's Seventh Framework Programme (FP7/2007-2013) and EFPIA companies’ in kind contribution.