The search for diagnostic biomarkers that can be used routinely is a major challenge to manage Amyotrophic lateral sclerosis (ALS) in order to characterize the pathophysiology and accelerate the management of the disease. Some non-specific biomarkers have been proposed (Neurofilaments, TDP-43) but their diagnostic value remains controversial. This study aims to identify ALS-specific platelet biomarkers using targeted and untargeted multi-omic approaches, in order to enable differential diagnosis between ALS and other motor neuron diseases.
Men or women aged 18 to 75
ALS diagnosed according to the El Escorial criteria
ALS diagnosis less than 3 months ago
Onset of symptoms defined as the time when muscle weakness was first observed by the patient less than 2 years ago
Genetic variants associated with ALS
Pregnant or breastfeeding women
Treatment with oral or injectable anticoagulants, antiplatelet agents (EXCEPT aspirin at the maximum authorized dosage of 160 mg per day)
Uncontrolled diabetes
Patients with ALS or another MND followed in 3 ALS centers
Case-control
Prospective
Not listed
Diagnostic potential of platelet biomarkers
Platelet biomarkers will be sought using targeted (TDP-43) and non-targeted multiomics screening approaches (transcriptomic, proteomic, metabo-lipidomic). The identified biomarkers will be integrated into multivariate models to evaluate their diagnostic potential in distinguishing ALS from other motor neuron diseases (sensibility, specificity, positive or negative predictive value).
Diagnostic performances of platelet biomarkers compared to plasma neurofilaments
Plasma neurofilament concentration will be measured in each participant's sample. Diagnostic potential of platelet biomarkers will be compared to that of plasma neurofilaments concentration. The platelet biomarkers previously identified and plasma neurofilament concentration will be integrated into multivariate models to evaluate and compare their diagnostic potential in distinguishing ALS from other motor neuron diseases.
Relationships between platelet biomarkers, neurofilaments and clinical characteristics
To better understand the pathophysiology of ALS, relationships with clinical characteristics will be investigated: weight, height, medical history, ALSFRS-r, King's and Milano-Torino scales, Forced Vital Capacity, symptom onset, site of onset, age of onset and concomitant treatments.
Discriminatory capacity of platelet molecular signatures
The capacity to discriminate distinct clinical endophenotype of ALS patients according to platelet molecular signatures will be evaluated using multivariate models.
Prognostic value of platelets biomarkers at diagnosis on ALS functional rating scale (ALSFRS-R) score progression after one year
Capacity of platelet biomarkers measured within 3 months post-diagnosis to predict functional progression of ALS (i.e. the percentage change in ALSFRS-R score between diagnosis and one year later)
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