Assessing the Role of Mitochondrial Dysfunction in Primary Progressive Multiple Sclerosis

Sponsor

IRCCS San Raffaele (Other)

Overall Status

Recruiting

CT.gov ID

NCT06025903

Collaborator

Azienda Socio Sanitaria Territoriale della Valle Olona (Other)

140

Enrollment

Locations

44.3

Anticipated Duration (Months)

Patients Per Site

1.6

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Multiple Sclerosis

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. We will search for altered mitochondrial pathways, as well as inherited and tissue-specific somatic mitochondrial variations associated with primary progressive multiple sclerosis.

Study Design

Study Type:

Observational

Anticipated Enrollment :

140 participants

Observational Model:

Case-Control

Time Perspective:

Prospective

Official Title:

Assessing the Role of Mitochondrial Dysfunction in Primary Progressive Multiple Sclerosis

Actual Study Start Date :

Sep 20, 2021

Anticipated Primary Completion Date :

Dec 31, 2023

Anticipated Study Completion Date :

May 30, 2025

Arms and Interventions

Arm	Intervention/Treatment
Primary Progressive multiple sclerosis patients affected by primary progressive multiple sclerosis
Relapsing Remitting multiple sclerosis patients affected by primary progressive multiple sclerosis

Outcome Measures

Primary Outcome Measures

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

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	IRCCS San Raffaele	Milan	MI	Italy	20132
2	ASST della Valle Olona - Ospedale di Gallarate	Gallarate	VA	Italy	21013

Sponsors and Collaborators

IRCCS San Raffaele
Azienda Socio Sanitaria Territoriale della Valle Olona

Investigators

Principal Investigator: Melissa Sorosina, IRCCS San Raffaele

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Melissa Sorosina, PhD, IRCCS San Raffaele

ClinicalTrials.gov Identifier:

NCT06025903

Other Study ID Numbers:

MitoMS_GR-2019-12368672

First Posted:

Sep 6, 2023

Last Update Posted:

Sep 6, 2023

Last Verified:

Aug 1, 2023

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Keywords provided by Melissa Sorosina, PhD, IRCCS San Raffaele

multiple sclerosis

mitochondria

Additional relevant MeSH terms:

Multiple Sclerosis

Multiple Sclerosis, Chronic Progressive

Sclerosis

Study Results

No Results Posted as of Sep 6, 2023