Omics Sciences for the Identification of Pathogenetic Mechanisms and Biomarkers in Neurodegenerative Diseases (NeurOmics)
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.
Study Overview
Status
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.
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Paola Mandich, MD, PhD
- Phone Number: +39 3473051001
- Email: paola.mandich@unige.it
Study Contact Backup
- Name: Vittorio Bocchini, Dr
- Email: vittorio.bocchini@hsanmartino.it
Study Locations
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Genoa
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Genoa, Genoa, Italy, 16132
- Recruiting
- Ospedale Policlinico San Martino
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Contact:
- Paola Mandich, MD
- Phone Number: 0103537957
- Email: paola.mandich@unige.it; pmandich@unige.it
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Adult
- Older Adult
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria
• Patients suffering from neurodegenerative diseases
Exclusion Criteria
• Patients not suffering from neurodegenerative diseases
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
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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
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
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Identify variants in our genetic makeup, proteins, and/or altered metabolic pathways in patients with neurodegenerative diseases
Time Frame: 10 years
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Thanks to the integration of genomic, gene expression, protein and metabolic data and clinical data, the Firm aims to identify new markers for diagnosis, prognosis, also in terms of response to therapy, and monitoring of neurodegenerative diseases. There will be three outcomes from the study.
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10 years
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Collaborators and Investigators
Sponsor
Collaborators
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Synucleinopathies
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Mental Disorders
- Neuromuscular Diseases
- Metabolic Diseases
- Dementia
- Tauopathies
- Neurodegenerative Diseases
- Movement Disorders
- Parkinsonian Disorders
- Basal Ganglia Diseases
- Spinal Cord Diseases
- TDP-43 Proteinopathies
- Proteostasis Deficiencies
- Motor Neuron Disease
- Nutritional and Metabolic Diseases
- Alzheimer Disease
- Parkinson Disease
- Amyotrophic Lateral Sclerosis
- Neurocognitive Disorders
Other Study ID Numbers
- Neuromics (209/2024 id.:13896)
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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