Mechanisms of Disease Severity in Multiple Sclerosis: an Integrative Multimodal Study

Active, not recruiting

• Conditions: Multiple Sclerosis
• Interventions: Other: Composite severity score calculation

• Registration Number: NCT03369106
• Lead Sponsor: Institut National de la Santé Et de la Recherche Médicale, France

Brief Summary

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.

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 Timeline

• Study First Submitted: 2017-11-28
• Study First Submitted QC: 2017-12-05
• Study First Posted: 2017-12-11
• Study Start: 2018-02-06
• Primary Completion: 2020-12-15
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-03
• Last Update Posted: 2025-03-05
• Study Completion: 2026-02-05

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 120

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Multiple Sclerosis siblings	Composite severity score calculation	Group of siblings having multiple sclerosis, n=120 Composite severity score calculation for all subjects

Primary Outcome Measures

Name	Time	Method
Change of Expanded Disability Status Scale (EDSS)	Baseline and 18 months	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.

Secondary Outcome Measures

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

Trial Locations

Locations (1)

CIC Neurosciences Institut du Cerveau et de la Moelle Epinière; 🇫🇷 Paris, France