“We are delighted to report that we have over-achieved our recruitment targets for this project. Patient recruitment can be especially difficult as patients are widely dispersed and may face issues, such as physical limitations, that can affect their ability to readily participate” says Prof Alarcón Riquelme. ‘Patients have been highly motivated and generously willing to participate’.
The project, which started in February 2014, has just completed the recruitment of 2871 participants divided amongst a prospective cohort (215 newly diagnosed patients, with 3 follow up visits), cross-sectional phase 1 study (302 participants) and cross-sectional phase 2 (2354 participants) across 9 European countries. These patients, suffering from systemic autoimmune diseases such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc), Sjögren’s syndrome (Sjs), rheumatoid arthritis (RA), primary antiphospholipid syndrome (PAPS), mixed connective tissue disease (MCTD) and systemic autoimmune disorders without a clear diagnosis, together with a smaller cohort of healthy people for comparison, have provided blood and urine samples which will undergo detailed molecular analysis at several laboratories in Europe. This recruitment of nearly 3000 patients in less than 3 years shows the excellent collaborative efforts of the diverse 28 strong consortium.
Patient samples are being currently analysed at different research facilities with an extensive network of European industrial, clinical and academic experts looking to use innovative diagnostic technology to relate systemic autoimmune disease (SAD) to detectable changes in individual molecular signatures.
Prof Chris Chamberlain, EFPIA Project Coordinator, points out that “We are creating a unique environment for this work, with the ability to share new and existing data for these diseases on an unprecedented scale”.
PRECISESADS collaborates with different patient associations such as Lupus Europe, FELUPUS, ELEANA and other European national Lupus, Scleroderma or Sjogren`s associations.
The consortium has already produced some key results in high profile journals describing genetic overlap between RA, SLE and SSc and the development of new methodologies particularly for the analysis of multi-OMIC data sets. Furthermore, PRECISESADS is organising a second international Genomics conference for October 2018 in Granada, Spain. The conference on the genomics of complex diseases will provide an overview of the genetic, epigenetic, regulatory and functional aspects of genomics studies as well as presenting the latest results obtained in this collaborative project leading to the implementation of precision medicine strategies