Omics Sciences for the Identification of Pathogenetic Mechanisms and Biomarkers in Neurodegenerative Diseases

NCT ID: NCT07235111

Last Updated: 2025-11-25

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 1200 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2025-02-28
• Study Completion Date: 2039-09-17

Brief Summary

The study aims to use 'omics' sciences, employing the most advanced technologies currently available, in order to identify pathogenic genomic variants, proteins and/or altered molecular pathways in neurodegenerative diseases and to obtain a new and more complete characterisation of subjects affected by the neurodegenerative diseases under study. Thanks to the integration of genomic, gene expression (transcriptomic and epigenomic), protein and metabolic data and clinical data, the study also aims to identify new markers for the diagnosis, prognosis, also in terms of response to therapy, and monitoring of neurodegenerative diseases.

The study involves the enrolment of at least 1.200 individuals with neurodegenerative disease.

Detailed Description

The study aims to use 'omics' sciences, employing the most advanced technologies currently available, in order to identify pathogenic genomic variants, proteins and/or altered molecular pathways in neurodegenerative diseases and to obtain a new and more complete characterisation of subjects affected by the neurodegenerative diseases under study. Thanks to the integration of genomic, gene expression (transcriptomic and epigenomic), protein and metabolic data and clinical data, the study also aims to identify new markers for the diagnosis, prognosis, also in terms of response to therapy, and monitoring of neurodegenerative diseases.

The study involves the enrolment of at least 1.200 individuals with neurodegenerative disease.

The study population consists of patients with neurodegenerative diseases from the IRCCS Ospedale Policlinico San Martino in Genoa and the IRCCS Cà Granda Ospedale Maggiore Policlinico Foundation in Milan and any other units that may wish to participate in the study after approval by the EC. The subjects eligible for enrolment will be identified during the outpatient visits scheduled during the clinical controls at the two centres. During these visits, patients will be proposed to participate in the study. The clinical diagnosis will be made according to the criteria used for each subtype of neurodegenerative disease and detailed in the project.

Different types of biological samples will be collected from patients enrolled in the study, mainly peripheral blood, saliva (if blood sampling is not possible) and urine. Samples will be taken during regular sampling at one of the follow-up visits.

Omics' analyses, mainly genomics, transcriptomics, epigenomics, etc., will be performed on the biological samples taken and/or their derivatives.

Analyses may be performed on genetic material extracted from whole peripheral blood, saliva, PBMCs (Peripheral blood mononuclear cells), plasma, serum and/or urine.

An aliquot of DNA, pseudonymised, will be sent to the Laboratories of the Italian Institute of Technology (Genoa and Aosta) for genome and other omics analysis.

An aliquot of DNA and the derivatives from the collection (serum, plasma, PBMC) will be stored in the Biobank of the Clinical Centres to which the patients are referred.

The study does not foresee the use of experimental drugs or other interventions on the patient, other than those foreseen in the diagnostic routine.

The study plans to characterise from an 'omics' point of view about 1.200 patients affected by neurodegenerative diseases and afferent to the IRCCS Policlinico San Martino in Genoa and to the Fondazione IRCCS Policlinico Cà Granda in Milan and any other Units that may wish to participate in the study after approval by the relevant TEC.

The aim of the Study, for the different pathologies of interest, is to identify, through the study of the genome, single and polygenic variants, both rare and common, single nucleotide (SNV) and/or structural (such as, CNV, insertions, translocations, inversions and mobile element insertions (MEI)) that may be causative or confer an increased risk of developing the disease. Furthermore. the integration of genomic data with other 'omics' sciences will make it possible to correlate the presence of such variations with gene, protein and metabolic expression, to delineate different trajectories of molecular mechanisms associated with neurodegeneration, their impact on disease progression and the identification of new therapeutic targets.

Conditions

Alzheimer Disease; FTD; Young-onset Dementia; MCI; Parkinson Disease; ALS (Amyotrophic Lateral Sclerosis)

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Patients diagnosed with neurodegenerative diseases

The study aims to identify pathogenic genomic variants and/or altered molecular pathways in these patients by analysing the entire genome and integrating these data with gene expression data and/or epigenomic and/or protein expression data. The study also aims to identify new markers for the diagnosis and monitoring of neurodegenerative diseases by analysing collected biological samples such as blood and blood derivatives, including liquid biopsy approaches using the most advanced technologies available at the t

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• Patients suffering from neurodegenerative diseases

Exclusion Criteria

• Patients not suffering from neurodegenerative diseases

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Istituto Italiano di Tecnologia

OTHER

Sponsor Role: collaborator

Ospedale Policlinico San Martino

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Ospedale Policlinico San Martino

Genoa, Genoa, Italy

Site Status: RECRUITING

Countries

Italy

Central Contacts

Paola Mandich, MD, PhD

Role: CONTACT

paola.mandich@unige.it

+39 3473051001

Vittorio Bocchini, Dr

Role: CONTACT

vittorio.bocchini@hsanmartino.it

Facility Contacts

Paola Mandich, MD

Role: primary

paola.mandich@unige.it; pmandich@unige.it

0103537957

Provided Documents

Document Type: Study Protocol

View Document

Other Identifiers

Neuromics (209/2024 id.:13896)

Identifier Type: -

Identifier Source: org_study_id