Mechanisms of Disease Severity in Multiple Sclerosis: an Integrative Multimodal Study (SEP-BIO-PROG)

This study will identify a combination of disease severity markers (genetic, immunology, epigenetic, imaging) associated with disease severity and progression in a cohort of patients with multiple sclerosis.

Study Overview

• Status: Active, not recruiting
• Conditions: Multiple Sclerosis
• Intervention / Treatment: Other: Composite severity score calculation

Detailed Description

The heterogeneity of multiple sclerosis evolution relies on several pathophysiological mechanisms including neuroinflammation, neurodegeneration and remyelination and repair mechanisms.

The study will identify markers of disease severity in a longitudinal cohort of patients with multiple sclerosis who are siblings (both siblings having multiple sclerosis) including: biological markers (genetic, immunological and epigenetic markers, advanced MRI markers). An integrative model to predict disease progression will be proposed based on multimodal markers.

• Study Type: Observational
• Enrollment (Estimated): 120

Contacts and Locations

Study Locations

• France
  • Paris, France, 75013
    • CIC Neurosciences Institut du Cerveau et de la Moelle Epinière

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Multiple Sclerosis siblings Group of siblings having multiple sclerosis, n=120

Description

Inclusion Criteria:

• Clinically isolated syndrome or Multiple sclerosis (2010 Mc Donald criteria)
• Sibling having Clinically isolated syndrome or Multiple sclerosis (2010 Mc Donald criteria) willing to participate to the study
• Affiliated to the French social security or equivalent

Exclusion Criteria:

• Cyclophosphamide, mitoxantrone or methylprednisolone infusion within one month before inclusion
• Multiple sclerosis relapse within one month before inclusion
• Concomitant severe or uncontrolled disease

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Multiple Sclerosis siblings; Group of siblings having multiple sclerosis, n=120 Composite severity score calculation for all subjects	Other: Composite severity score calculation; Neurological examination, cognitive testing, and MRI exam

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change of Expanded Disability Status Scale (EDSS)	Change in the Expanded Disability Status Scale (EDSS) which is the neurological assessment of disability related to multiple sclerosis. The EDSS measures disability status on a scale ranging from 0 to 10, with higher scores indicating more disability. Scoring is based on measures of impairment in eight functional systems on examination by a neurologist.	Baseline and 18 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in neuropsychological scores	Change in the battery of neuropsychological tests adapted for multiple sclerosis	Baseline and 18 months
Change in T2 lesion volume	Change in volume of T2 lesion in the white matter	Baseline and 18 months
Grey matter volume change	Change in cerebral grey matter volume	Baseline and 18 months

Collaborators and Investigators

• Sponsor: Institut National de la Santé Et de la Recherche Médicale, France
• Investigators: Principal Investigator: Celine Louapre, MD, PHD, Institut du Cerveau et de la Moelle Epinière

Study record dates

Study Major Dates

• Study Start (Actual): February 6, 2018
• Primary Completion (Actual): December 15, 2020
• Study Completion (Estimated): December 1, 2026

Study Registration Dates

• First Submitted: November 28, 2017
• First Submitted That Met QC Criteria: December 5, 2017
• First Posted (Actual): December 11, 2017

Study Record Updates

• Last Update Posted (Actual): March 11, 2026
• Last Update Submitted That Met QC Criteria: March 10, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Autoimmune Diseases; Immune System Diseases; Demyelinating Autoimmune Diseases, CNS; Autoimmune Diseases of the Nervous System; Demyelinating Diseases; Multiple Sclerosis
• Other Study ID Numbers: C16-114; 2017-A01844-49 (Registry Identifier: RCB)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No