A prediction score for individuals at risk for Systemic Lupus Erythematosus (SLE) by integrating clinical, serologic and transcriptomic data

Concept

Systemic Lupus Erythematosus (SLE; «lupus») begins several years before the actual time of diagnosis, when a person has no or very mild symptoms but her/his immune cells start malfunctioning and produces antinuclear («ANAs») and other auto-antibodies (so called «preclinical lupus»). This gives an opportunity for planning preventive strategies which could potentially restore immune system function and delay (or even, prevent) lupus.

Facts and figures

Project lead
G Bertsias
University of Crete
gbertsias@uoc.gr
FOREUM research grant: € 400.000
2018–2021

Meet the team

G Bertsias
University of Crete
A Stara
Arthritis Foundation Crete
A Tincani
University of Brescia
M Mosca
University of Pisa
L Inês
Centro Hospitalar E Universitario de Coimbra
K Lerstroem
Lupus Europe
C Pamfil
University of Medicine and Pharmacy
S Jacobsen
Copenhagen University
E Dermitzakis
University Hospitals of Geneva
A Fanouriakis
University Hospital

Objectives

To integrate demographic, family history, environmental (smoking, diet, exercise, alcohol use, working environment), clinical and serological data, with genotypes and whole-blood gene profiling towards developing a “lupus risk” prediction model.

Patient voice

The Arthritis Foundation of Crete and Lu- pus Europe participate in the consortium and have been involved in the discussions and the design of the study. Their representatives will participate in all consortium meetings where the study details will be finalized and the results will be presented and discussed.

In all phases, the patients‘ views will be incorporated as much as possible. Besides helping with patient recruitment and retention strategies (possible risk of the project), the Foundation will assist in interpretation and dissemination of the results.

Interim results

Among more than 400 screened individuals, 361 at-risk individuals have been enrolled in the cohort with complete demographic, clinical, serological data and biosampling. During follow-up of approximately 24 months, a total 43 individuals (12%) have progressed into classified SLE. Genome-wide RNA profiling at the time of enrolment of cases who eventually progressed or not to SLE is currently underway.

Publications

  • Lupus or not? SLE Risk Probability Index (SLERPI): a simple, clinician-friendly machine learning-based model to assist the diagnosis of systemic lupus erythematosus. Adamichou C, Genitsaridi I, Nikolopoulos D, Nikoloudaki M, Repa A, Bortoluzzi A, Fanouriakis A, Sidiropoulos P, Boumpas DT, Bertsias GK. Ann Rheum Dis. 2021; doi: 10.1136/annrheumdis-2020-219069
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  • Update on the diagnosis and management of systemic lupus erythematosus. Fanouriakis A, Tziolos N, Bertsias G, Boumpas DT. Ann Rheum Dis. 2021 Jan;80(1):14-25. doi: 10.1136/annrheumdis-2020-218272.
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  • An Update on the Diagnosis and Management of Lupus Nephritis. Kostopoulou M, Adamichou C, Bertsias G. Curr Rheumatol Rep. 2020 Jun 4;22(7):30. doi: 10.1007/s11926-020-00906-7.
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  • In an early SLE cohort the ACR-1997, SLICC-2012 and EULAR/ACR-2019 criteria classify non-overlapping groups of patients: use of all three criteria ensures optimal capture for clinical studies while their modification earlier classification and treatment. Adamichou C, Nikolopoulos D, Genitsaridi I, Bortoluzzi A, Fanouriakis A, Papastefanakis E, Kalogiannaki E, Gergianaki I, Sidiropoulos P, Boumpas DT, Bertsias GK. Ann Rheum Dis. 2020 Feb;79(2):232-241. doi: 10.1136/annrheumdis-2019-216155.
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  • Suspected systemic rheumatic diseases in patients presenting with cytopenias. Nikolopoulos D, Adamichou C, Bertsias G. Best Pract Res Clin Rheumatol. 2019 Aug;33(4):101425. doi: 10.1016/j.berh.2019.06.007.
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  • EULAR 2020 Poster Presentation (Poster no. 4468). A multicenter “at-risk” cohort for the discovery of environmental, clinical and molecular predictors for the transition into systemic lupus erythematosus (SLE).

EULAR Abstracts

2020

  • THU0014: Comparative transcriptome analyses across tissues and species identify targetable genes for human Systemic Lupus Erythematosus (SLE) and Lupus Nephritis (LN)
  • FRI0155: A multicenter “at-risk” cohort for the discovery of environmental, clinical and molecular predictors for the transition into systemic lupus erythematosus (SLE)
    Go to EULAR Abstract Archive

Goals/Milestones

Year 1-2: Recruitment (inception cohort), biobanking
Year 1-5: Monitoring (inception cohort)
Year 3-5: RNA extraction, RNA-seq, bioinformatics
Year 3-5: Analysis of cohort data, prediction score