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