Assessing the Role of Mitochondrial Dysfunction in Primary Progressive Multiple Sclerosis
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Multiple Sclerosis
- Sponsor
- IRCCS San Raffaele
- Enrollment
- 140
- Locations
- 2
- Primary Endpoint
- sequencing of mitochondrial DNA
- Status
- Recruiting
- Last Updated
- 2 years ago
Overview
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.
Investigators
Melissa Sorosina
Principal Investigator
IRCCS San Raffaele
Eligibility Criteria
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
Outcomes
Primary Outcomes
sequencing of mitochondrial DNA
Time Frame: 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