Assessing the Role of Mitochondrial Dysfunction in Primary Progressive Multiple Sclerosis

Recruiting

• Conditions: Multiple Sclerosis

• Registration Number: NCT06025903
• Lead Sponsor: IRCCS San Raffaele

Brief Summary

The purpose of this project is to study genetic determinants of mitochondrial impairment in primary progressive multiple sclerosis. Specific aims are: 1) identify mitochondrial-related pathways, inherited and somatic mitochondrial DNA mutations associated to primary progressive multiple sclerosis, 2) functionally assess the identified genetic alterations.

Detailed Description

Multiple Sclerosis is a major cause of neurological disability, with a high socio-economic impact that increases as disability progresses. Effective treatment of primary progressive multiple sclerosis is still an unmet need and the underlying neurodegenerative processes have to be fully investigated. The purpose of this project is to study genetic determinants of mitochondrial impairment in primary progressive multiple sclerosis. Altered mitochondrial pathways will be investigate, as well as inherited and tissue-specific somatic mitochondrial variations associated with primary progressive multiple sclerosis.

Study Timeline

• Study Start: 2021-09-20
• Study First Submitted: 2023-08-29
• Study First Submitted QC: 2023-08-29
• Study First Posted: 2023-09-06
• Status Verified: 2024-03
• Last Update Submitted: 2024-03-21
• Last Update Posted: 2024-03-22
• Primary Completion: 2024-09-30
• Study Completion: 2025-05-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 140

Inclusion Criteria

• Patients affected by primary progressive or relapsing remitting multiple sclerosis
• Patient able to provide informed consent

Exclusion Criteria

• Individuals with < 18 years
• Patients not affected by primary progressive or relapsing remitting multiple sclerosis

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
sequencing of mitochondrial DNA	3 years	the mitochondrial DNA collected from blood and cerebrospinal fluid will be sequenced and analysed, comparing the frequency of variants between the two disease courses

Trial Locations

Locations (2)

ASST della Valle Olona - Ospedale di Gallarate; 🇮🇹 Gallarate, VA, Italy

IRCCS San Raffaele; 🇮🇹 Milan, MI, Italy