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Completed

NCT Number: NCT02890147

Molecular Reclassification to Find Clinically Useful Biomarkers for Systemic Autoimmune Diseases: Case-control

Connective tissue diseases (CTD) or 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.Brest team contribute to perform a new classification of the following systemic autoimmune diseases in a European Union's Seventh Framework Programme. The aim of this research is to constitute a Healthy Volunteers cohort to compare with systemic autoimmune diseases cohort into molecular clusters instead of clinical entities through the determination of molecular profiles using several "Omics" techniques.

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Key information

Conditions

Healthy Subjects

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Medical University of Vienna, Vienna, Austria

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About this study

The main objective of the PRECISESADS project is to reclassify the individuals affected by SADs into molecular clusters instead of clinical entities through the determination of molecular profiles using several "-omics" techniques.

The specific objectives of this cross sectional study and sub-study are:

  • To identify a systemic taxonomy for patients with SADs by producing the following data in individuals with SADs and controls: genetic, epigenomic, transcriptomic, flow cytometric (from peripheral blood mononuclear and polymorphonuclear cells (PBMCs)), metabolomics and proteomic in plasma and urine, exosome analysis, classical serology (antibodies and autoantibodies), and clinical data.
  • To better characterize individual SADs at the omics level.
  • To perform clustering analyses to determine the groups of individuals who, differentially from other groups, share specific molecular features (precision medicine).
  • To identify gene expression, methylation profiles through deconvolution methods comparing a mixture of cells with subpopulations determined by flow cytometry with separated cells, cytokine profiles and plasma metabolomics using Mass Spectrometry, in a substudy of 288 individuals.

The clustering process will be data-driven with the aim to find the most homogenous and differentiated clusters of diseases that clearly separate individuals on the basis of, serological, genetic, epigenomic, cellular (cell proportions), metabolomic, proteomic (cytokines, autoantibodies) and transcriptome characteristics and differentiate them from controls and other patient clusters.

A total of 2000 patients and 666 controls will be included in the study.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Aged 18 years or older at the time of consent
  • Signed the informed consent form

Exclusion criteria

  • Individuals on chronic medication.
  • Individuals suffering from any inflammatory, autoimmune, allergic or infectious condition and if possible without a history of autoimmune disease, particularly thyroid disease or other diseases that may modify cellular profiles in blood.
  • Pregnant women.

Treatment and study plan

Primary outcomes

  1. Gene expression in total blood

    Time frame: 2 years

    Gene expression will be done using commercial gene expression microarrays in total blood from all samples using the RNA Paxgene tube.

  2. Flow cytometry analysis to determine cell proportions in the total blood mixture in all individuals.

    Time frame: 24 hours

    9 optimized panels of antibodies will be used to determine cell subpopulations in peripheral blood (including very minor cell populations).

  3. Genotyping

    Time frame: 2 years

    Genotyping will be done using a whole genome array.

  4. Metabolite determination

    Time frame: 2 years

    Metabolite determination in plasma and urine using Nuclear Magnetic Resonance

  5. Exosome isolation from plasma and urine

    Time frame: 2 years

    set up of the methodology for isolating exosomes in these bodily fluids for gene expression analysis

  6. Cytokine profile determination

    Time frame: 2 years

    88 different cytokines will be assessed with Luminex

  7. routine autoantibodies in serum

    Time frame: 2 years

    set of serum autoantibodies will be determined in a European validated laboratory. Also, they will perform detection of antibodies against small lipid moieties i.e.antiphosphorylcholine), lupus anticoagulant and complement proteins in plasma.

  8. Gene expression methylation in total blood

    Time frame: 2 years

    Methylation analysis will be done using the methylome 450k array using the DNA obtained from total blood. MicroRNA gene expression arrays using total blood.

Sponsors and collaborators

Lead sponsor

Fundación Pública Andaluza Progreso y Salud

Other

Collaborators

  • Andaluz Health Service
  • Atrys Health
  • August Pi Sunyer Biomedical Research Institute
  • Bayer
  • Centro Hospitalar do Porto
  • Charite University, Berlin, Germany
  • Eli Lilly and Company
  • Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
  • Hannover Medical School
  • Innovative Medicines Initiative
  • Institut d'Investigació Biomèdica de Bellvitge
  • Institut de Recherches Internationales Servier
  • KU Leuven
  • Karolinska Institutet
  • Klinikum der Universität Köln
  • Medical University of Vienna
  • National Research Council, Spain
  • Quartz Bio S.A.
  • Sanofi
  • Servicio Cántabro de Salud
  • Szeged University
  • The Cyprus Foundation for Muscular Dystrophy Research
  • UCB Biopharma S.P.R.L.
  • Universidad de Granada
  • University Hospital, Brest
  • University of Geneva, Switzerland
  • University of Milan
  • Université Catholique de Louvain

Registry information

Acronym: PRECISESADST

Important dates

Study start
2014
Primary completion
2017
Study completion
2017
First posted
Sep 7, 2016
Registry last updated
May 23, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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