Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease for which reliable biomarkers for early diagnosis, prognosis, and patient stratification remain limited. Previous genetic, proteomic, imaging, and electrophysiological studies have identified potential biomarkers and phenotype modifiers, improving the understanding of motor neuron degeneration mechanisms. However, these findings have not yet been translated into a clinically useful biomarker algorithm. This observational study aims to develop a biomarker panel to support the diagnosis, prognosis, and stratification of patients with ALS. Clinical and molecular biomarkers previously associated with ALS phenotypes will be analyzed simultaneously and integrated into a multivariable predictive model. Clinical data and biological samples will be collected and analyzed to identify combinations of biomarkers associated with ALS phenotypes.
Age greater than 18 years.
Male and female patients with ALS diagnosed according to the El Escorial diagnostic criteria.
Sporadic or familial ALS cases.
Spinal-onset or bulbar-onset ALS cases.
Refusal to participate.
Individuals deprived of liberty (Article L1121-6), including those subject to judicial or administrative decisions or involuntary hospitalization.
Adults under legal protection (guardianship, curatorship, or judicial protection measures) (Article L1121-8).
Individuals not affiliated with, or not beneficiaries of, a French social security scheme (Article L1121-8-1).
Adult participants with amyotrophic lateral sclerosis (ALS) meeting the El Escorial diagnostic criteria. Both sporadic and familial ALS cases, including spinal-onset and bulbar-onset phenotypes, are eligible for participation. Participants will be recruited at Montpellier University Hospital, a specialized ALS center, and will provide blood samples and clinical data for biomarker analyses.
Cohort
Prospective
peripheral venous blood collection
Other interventioncollection of an additional 24 mL of blood following a routine blood draw
collection of medical data related to patient care
Other interventioncollection of medical data from patient care during the 12-month follow-up period, drawn from electronic medical records, including laboratory test results, clinical examination findings, and paraclinical test results
Development of a biomarker panel for diagnosis, prognosis, and patient stratification in ALS
A multivariable biomarker panel integrating clinical variables, genetic variants associated with ALS survival, and serum protein and immunological biomarkers will be evaluated. Biomarkers include cytokines, neurofilament light chain (NF-L), GFAP, phosphorylated TDP-43, TDP-43, total Tau, phosphorylated Tau, and UCHL1, together with genotyping of ALS-associated survival variants. The panel will be assessed for its ability to support prognosis and patient stratification in amyotrophic lateral sclerosis (ALS).
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University Hospital, Montpellier
Lead sponsor
Hospital Universitari Vall d'Hebron Research Institute
Collaborator
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