Assessing the Role of Mitochondrial Dysfunction in Primary Progressive Multiple Sclerosis

San Donato Group (GSD)

Status: Enrolling

Conditions: Multiple Sclerosis

Study type: Observational

Funder types: Other

Identifiers

NCT06025903

MitoMS_GR-2019-12368672

Details and patient eligibility

About

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.

Full 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.

Enrollment: 140 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No 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

Trial design

140 participants in 2 patient groups

Primary Progressive multiple sclerosis

Description:

patients affected by primary progressive multiple sclerosis

Relapsing Remitting multiple sclerosis

Description:

patients affected by primary progressive multiple sclerosis