Developing a Comprehensive Biomarker Panel for Monitoring Progression and Early Detection in ALS Patients

N/ANot Yet RecruitingNCT07737977

University Hospital, Montpellier200 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

200

Conditions

ALS (Amyotrophic Lateral Sclerosis)

Interventions

peripheral venous blood collectionOTHER

collection of an additional 24 mL of blood following a routine blood draw

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * 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. Exclusion Criteria: * 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). * Individuals participating in another research study with an ongoing exclusion period (Article L1121-12).

Locations (2)

Montpellier University Hospital

Montpellier, Occitanie, France

Hospital Universitari Vall D'Hebron

Barcelona, Spain

Outcomes

Primary Outcomes

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).

Time frame: From baseline to 12 months