NCT07268833 Translating Single-cell Vulnerability Into Novel ALS Biomarkers and Therapeutic Targets: Towards a Liquid Nerve Biopsy

Eligibility & Interventions

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What to Expect as a Participant

This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.

This trial targets 400 participants in total. It began in 2024-10-24 with a primary completion date of 2027-04.

Brief Summary

The progress of ALS research and clinical practice is hampered by lack of effective biomarkers to monitor disease onset and progression. In response to this urgent need, we will integrate single-cell system biology approaches, histopathological and clinical data from precious human nerve biopsies collected from living ALS patients during the diagnostic workup and findings from innovative preclinical mouse models to unmask cell-specific molecular alterations that arise in the PNS tissue during the course of ALS pathology. This information will be used to select protein biomarkers of dysfunctional states associated with pre-manifest or early symptomatic stages of the disease, which will be further screened and validated in patient biofluids. Altogether, this project will lead to the discovery of novel, reliable and specific ALS biomarkers while providing insights into ALS mechanisms by leveraging an original "PNS perspective" on disease pathogenesis.

Eligibility Criteria

Inclusion Criteria for als patients: * Age equal or over 18 years old * ALS patients, diagnosed accordingly to the revised El Escorial Criteria * Disease duration \<24 months from symptom onset. Exclusion Criteria for als patients: * FVC \<60%; * nutritional or respiratory failure; * significant hepatic or chronic renal failure or any interveninginfective or metabolic conditions potentially influencing CBs levels. Inclusion criteria for ALS pre-symptomatic patients * Age equal or over 18 years old * Patients with genetic defined susceptibility to ALS and one or more strict relative affected from ALS Exclusion criteria for ALS pre-symptomatic patients * significant hepatic or chronic renal failure or any interveninginfective or metabolic conditions potentially influencing CBs levels. Inclusion criteria for controls * Age equal or over 18 years old * Subjects without a diagnosis of neurodegenerative disease or neuromuscular disorder. Exclusion criteria for controls • significant hepatic or chronic renal failure or any interveninginfective or metabolic conditions potentially influencing CBs levels. Inclusion criteria for non ALS neurodegenerative patients * Age equal or over 18 years old * For AD: Diagnosis according to 2018 NIA-AA Framework for Alzheimer's Disease * For FTD: Diagnosis according to 2011 International Behavioural Variant FTD Criteria Consortium * For PD: Diagnosis according to 2015 Movement Disorder Society criteria * For DLB: Diagnosis according to 2017 Fourth Consensus Report of the DLB Consortium Exclusion criteria for non ALS neurodegenerative patients * significant hepatic or chronic renal failure or any interveninginfective or metabolic conditions potentially influencing CBs levels. Inclusion criteria for neuromuscular disease patients * Age equal or over 18 years old * Presence of axonal or demyelinating neuropathy Exclusion criteria for neuromuscular patients * significant hepatic or chronic renal failure or any interveninginfective or metabolic conditions potentially influencing CBs levels.

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