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

NCT07235111 | Recruiting

• 1 other identifier: Neuromics (209/2024 id.:13896)
• Study Type: observational
• Target: 1,200
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

LEWY BODIES DISEASE; young-onset dementia; alzheimer; parkinson; als; mci

Outcome Measures

Primary Outcomes (1)

• Identify variants in our genetic makeup, proteins, and/or altered metabolic pathways in patients with neurodegenerative diseases

  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. * Identification of variants in our coding DNA (i.e. that serves to produce proteins needed by our cells) that are known to cause or predispose to Alzheimer's disease; * Analyze the non-coding regions of our DNA (i.e. regions that serve to regulate, modify, inhibit the production of proteins in our body) in search of variants that can cause, modify the prognosis and/or response to drugs in Alzheimer's disease; * Investigate the role of genetic-molecular alterations on the clinical phenotype for the most frequent variants

  10 years

Study Arms (1)

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

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

NeurOmics is a multicenter observational study, conducted on patients diagnosed with neurodegenerative disease (AD, MCI, PD, ALS, atypical parkinsonisms)

You may qualify if:

• Patients suffering from neurodegenerative diseases

You may not qualify if:

• Patients not suffering from neurodegenerative diseases

Sponsors & Collaborators

• Ospedale Policlinico San Martino: lead
• Istituto Italiano di Tecnologia: collaborator

Study Sites (1)

Ospedale Policlinico San Martino

Genoa, Genoa, 16132, Italy

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

peripheral blood, saliva, PBMCs (Peripheral blood mononuclear cells), plasma, serum and/or urine

MeSH Terms

Conditions

Alzheimer Disease; Parkinson Disease; Amyotrophic Lateral Sclerosis; Neurocognitive Disorders

Condition Hierarchy (Ancestors)

Dementia; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Tauopathies; Neurodegenerative Diseases; Mental Disorders; Parkinsonian Disorders; Basal Ganglia Diseases; Movement Disorders; Synucleinopathies; Spinal Cord Diseases; Motor Neuron Disease; TDP-43 Proteinopathies; Neuromuscular Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Paola Mandich, MD, PhD

CONTACT

+39 3473051001; paola.mandich@unige.it

Vittorio Bocchini, Dr

CONTACT

vittorio.bocchini@hsanmartino.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 14, 2025
• First Posted: November 19, 2025
• Study Start: February 28, 2025
• Primary Completion (Estimated): September 17, 2034
• Study Completion (Estimated): September 17, 2039
• Last Updated: November 25, 2025

Record last verified: 2025-02

Locations

IT (1)