Assessing the Role of Mitochondrial Dysfunction in Primar... | NCT06025903

Studies
Assessing the Role of Mitochondrial Dysfunction in Primary Progressive Multiple Sclerosis

NCT06025903

Sponsor

IRCCS San Raffaele

Status

Unknown status

Last Update Posted

Mar 22, 2024Actual

Enrollment

140Estimated

Phase

Not provided

Conditions

Multiple Sclerosis

Interventions

Not provided

Countries

Italy

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2024

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 20, 2021Actual

Primary Completion Date

Sep 30, 2024Estimated

Completion Date

May 30, 2025Estimated

First Submitted Date

Aug 29, 2023

First Submission Date that Met QC Criteria

Aug 29, 2023

First Posted Date

Sep 6, 2023Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 21, 2024

Last Update Posted Date

Mar 22, 2024Actual

Name	Class
Azienda Socio Sanitaria Territoriale della Valle Olona	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

140Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Primary Progressive multiple sclerosis		patients affected by primary progressive multiple sclerosis
Relapsing Remitting multiple sclerosis		patients affected by primary progressive multiple sclerosis

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

patients will be recruited from primary care clinic

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Federica Esposito	Contact	0226437833		esposito.federica@hsr.it

Overall Officials

Name	Affiliation	Role
Melissa Sorosina	IRCCS San Raffaele	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
IRCCS San Raffaele	Recruiting	Milan	MI	20132	Italy

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D009103	Multiple Sclerosis

Ancestor Terms

ID	Term
D020278	Demyelinating Autoimmune Diseases, CNS
D020274	Autoimmune Diseases of the Nervous System
D009422	Nervous System Diseases
D003711	Demyelinating Diseases

Browse Leaves

Not provided

Browse Branches

Not provided