Assessing the Role of Mitochondrial Dysfunction in Primary Progressive Multiple Sclerosis

Multiple Sclerosis Clinical Trial

Official title:

Assessing the Role of Mitochondrial Dysfunction in Primary Progressive Multiple Sclerosis

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06025903
• Other study ID #: MitoMS_GR-2019-12368672
• Status: Recruiting
• Start date: September 20, 2021
• Est. completion date: May 30, 2025

Study information

• Verified date: March 2024
• Source: IRCCS San Raffaele
• Contact: Federica Esposito
• Phone: 0226437833
• Email: esposito.federica[@]hsr.it
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 140
• Est. completion date: May 30, 2025
• Est. primary completion date: September 30, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Mitochondrial Diseases
• Multiple Sclerosis
• Multiple Sclerosis, Chronic Progressive
• Sclerosis

Locations

Country	Name	City	State
Italy	ASST della Valle Olona - Ospedale di Gallarate	Gallarate	VA
Italy	IRCCS San Raffaele	Milan	MI

Sponsors (2)

Lead Sponsor	Collaborator
IRCCS San Raffaele	Azienda Socio Sanitaria Territoriale della Valle Olona

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	sequencing of mitochondrial DNA	the mitochondrial DNA collected from blood and cerebrospinal fluid will be sequenced and analysed, comparing the frequency of variants between the two disease courses	3 years