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NCT Number: NCT04873492

From Genetics to Transcriptomics to Unravel the Mechanisms Behind a Poor Outcome in Multiple Sclerosis

MS is a heterogeneous disease either in its response to treatment or clinical manifestation. Indeed, the natural history of MS is varying from a benign condition to a devastating and rapidly incapacitating disease. Clinical heterogeneity could also be cellular and / or molecular. The aim is to identify from OMIC analyses, at the early stage of the disease, differentially expressed molecules and / or cell subpopulations derived from CD8 + T lymphocytes and / or CD4 + T lymphocytes and / or B lymphocytes and monocytes from patients with aggressive versus non-aggressive, compared to a cohort of healthy controls

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Key information

Conditions

Multiple Sclerosis Autoimmune Diseases Autoimmune Diseases of the Nervous System Demyelinating Autoimmune Diseases, CNS Demyelinating Diseases Immune System Diseases Nervous System Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Nantes University Hospital

Nantes, Loire-Atlantique, 44093, France

Location status: Recruiting

Location contact

David LAPLAUD, Phd

CONTACT

[email protected]

33240165200

Who can participate

Healthy volunteers accepted: Yes

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

Inclusion criteria

Common criteria for retrospective MS patients:

  • Patients aged 18 years or older
  • Clinical isolated syndrome (CIS) with or without dissemination in space
  • Patients affiliated to an appropriate health insurance

Criteria for Aggressive MS group

  • Start of a 2nd line therapy within the two years following the CIS

Criteria for Non aggressive MS group

  • No conversion according to McDonald criteria from clinical isolated syndrome to multiple sclerosis within 2 years or
  • Conversion based to McDonald criteria treated or not with first line disease modifying therapy within 2 years.
  • Have a minimum of least 2 years of follow-up.

Healthy volunteers

  • Aged 18 years or older
  • No history of clinically isolated syndrome or MS

Pairing criteria :

  • Age +/- 5 years
  • Sex

Prospective MS Patients

  • Patients aged 18 years or older
  • Clinical isolated syndrome (CIS) with or without dissemination in space
  • Patients affiliated to an appropriate health insurance

Exclusion criteria

  • Ongoing participation to a another study
  • Refusal to genetic analyses
  • Immunosuppressive drug at the time of blood collection
  • Plasma exchange or corticosteroid treatment within the four weeks prior to blood sample
  • Adults under a legal protection regime (guardianship, trusteeship, judicial safeguard)
  • Pregnancy

Treatment and study plan

Biological sample collection

Other

Venous blood sample will be collected from patients belonging to validation cohort and healthy volunteers at baseline resulting in 90 Ml EDTA tube and 10 ml serum tube. Approximately 100 ml will be collected. optional saliva and stool collection will be performed.

Primary outcomes

  1. Bulk RNA-sequencing

    Time frame: Blood sample collection within 6 months after first inflammatory event for MS patients and at inclusion for healthy volunteers.

    Transcriptional profile of T and B cells in aggressive and non-aggressive MS and healthy volunteers. Measurement of gene expression of naïve and memory CD4+ and CD8+ T and B cell. Comparison of these expression level between MS patients with aggressive and non-aggressive form and healthy volunteers.

Secondary outcomes

  1. Single RNA sequencing

    Time frame: Blood sample collection within 6 months after first inflammatory event.

    Single cell transcriptomics of T and B cells in order to identify by clustering, sub populations within these cells based on gene expression and associated to poor pronostic.

  2. Association of genetic sequence variation from whole genome sequencing with gene expression profile via Bulk RNA-seq

    Time frame: Blood sample collection within 6 months after first inflammatory event.

    Add genetic variant analyzes to RNA seq analyses related to MS 1) Identify eQTL. 2 Impute SNPs result to calculate MS Genetic Burden (MSGB) a polygenic risk score of MS computed based on a weighted scoring algorithm using independent MS-SNPs.

  3. Association of transcriptomic variation with DNA methylation

    Time frame: Blood sample collection within 6 months after first inflammatory event.

    Add Analyzes of gene expression regulation throughout DNA methylation of CpG sites to RNA seq analyses related to MS.

  4. OMIC integration

    Time frame: Blood sample collection within 6 months after first inflammatory event.

    Developing machine learning method to combine genomic, epigenomic transcriptomic and clinical data to pinpoint genes of interest particularly involved in aggressive MS outcomes.

Study contacts

Contact information is provided by the study sponsor or research team.

David LAPLAUD, PhD

CONTACT

[email protected]

33 2 40 16 52 00

Sponsors and collaborators

Lead sponsor

Nantes University Hospital

Other

Registry information

Acronym: OUTCOMS

Important dates

Study start
2022
Primary completion
2029
Study completion
2029
First posted
May 5, 2021
Registry last updated
Mar 19, 2026

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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