Ccf mtDNA as a Neurodegenerative Biomarker

NCT03938909 | Unknown

• 1 other identifier: CGM-03
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

Brief Summary

There is a long history of research into body fluid biomarkers in neurodegenerative and neuroinflammatory diseases. However, only a few biomarkers in cerebrospinal fluid (CSF) are being used in clinical practice. One of the most critical factors in biomarker research is the inadequate linkage of biological samples with data from medical records, environmental exposure, lifestyle information and other medically relevant information. In this context the biobanks are an invaluable resource for medical research and, in particular, for the identification of biomarkers. This project aims to enstablish a biobank for Multiple Sclerosis that allow to collect periodically, at each follow up, clinical data, tissues such as blood and cerebrospinal fluid and DNA, RNA, proteins, from patients afferent at the Centre for the Study and Cure of Multiple Sclerosis in Neurological Institute "Neuromed", Pozzilli, Isernia. The samples stored in this biobank are examined by quantization of a potential innovative biomarker focused on the formation of circulating mitochondrial DNA. Fragments of mitochondrial DNA (mtDNA) are released outside the cell and they appear to persist in extracellular fluids as circulating, cell-free, mtDNA (ccf-mtDNA). This occurs during acute inflammation, which anticipates the neurodegenerative process. Thus, an increase in inflammatory cells in the affected regions is expected to add on mtDNA release into the CSF. Thus, ccf-mtDNA may represent a powerful biomarker for disease screening and prognosis at early stage, although its biological role may extend to generating the neurobiology of disease. Aims:

1. 1.Identify a technique that allows to isolate, the mitochondrial DNA circulating from different biological tissues (Droplet Digital PCR, Real Time PCR).
2. 2.Use different technologies to quantify the presence of circulating mitochondrial DNA
3. 3.Use circulating mitochondrial DNA as a biomarker of neurodegenerative and / or neuroinflammatory pathologies.

Conditions

Neurodegenerative Diseases

Outcome Measures

Primary Outcomes (1)

• Neurology consulting

  Radiological and neuro and physiological approces; different laboratory test (CSF analysis,ematological test);neurological impairment is assessed with Expanded Disability Status Scale and through radiological assessment, cognitive impairment.

  1 week

Secondary Outcomes (3)

• Molecular testing

  1 years

• Cytokine measurements

  1 years

• Statistical analyses.

  5 months

Study Arms (3)

Patients with Multiple Sclerosis

200 patients and 200 control

Genetic: cif mtDNA biomarker

Patients with dementia

100 patients and 100 control

Genetic: cif mtDNA biomarker

Patients with Parkinson's disease

50 patients and 50 control

Genetic: cif mtDNA biomarker

Interventions

cif mtDNA biomarker GENETIC

The aim is to evaluate the role of ccf-mtDNA as a specific and early biomarker for different clinical pictures

Patients with Multiple Sclerosis; Patients with Parkinson's disease; Patients with dementia

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

neurology analysis of patients by international trembling guidelines

You may qualify if:

• Clinical criteria for neurogenetic disease

You may not qualify if:

• absence of clinical condition

Sponsors & Collaborators

• Neuromed IRCCS: lead

Study Sites (1)

Stefano Gambardella

Pozzilli, Isernia, 86077, Italy

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

CSF, Serum, Plasma, Blood, DNA and RNA

MeSH Terms

Conditions

Neurodegenerative Diseases

Condition Hierarchy (Ancestors)

Nervous System Diseases

Central Study Contacts

Stefano Gambardella, PhD

CONTACT

+39 0865 915 209; stefano.gambardella@neuromed.it

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Doctor, Principal Investigator

Study Record Dates

• First Submitted: April 16, 2019
• First Posted: May 6, 2019
• Study Start: March 1, 2019
• Primary Completion: December 1, 2022
• Study Completion: January 1, 2025
• Last Updated: April 28, 2022

Record last verified: 2022-04

Locations

IT (1)