Serum Neurofilaments in the Diagnosis of Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a serious neurodegenerative disease, often difficult to diagnose due to symptoms similar to other neurological pathologies. Diagnosis can take up to 14 months, although the rapid progression of the disease requires early detection. At present, there is no validated biomarker to aid diagnosis. Serum neurofilaments light chain (NfL), markers of neuronal degeneration, show great potential to help diagnose ALS early and assess disease severity. Recent research has shown that measurement of NfL in the blood can differentiate ALS from other neurological disorders, and new technologies are increasingly making it possible to perform these tests clinically.

The study hypothesis is that NfL blood levels, measured using clinical analyzers, could improve early ALS diagnosis, optimize patient recruitment for therapeutic trials and accelerate the assessment of treatment efficacy.

The primary objective is to evaluate the sensitivity and specificity of serum NfL for the diagnosis and differential diagnosis of amyotrophic lateral sclerosis (ALS) in newly recruited patients referred to the ALS Reference Center at Montpellier University Hospital. The diagnosis is established according to the revised El Escorial diagnostic criteria (see Appendix). This diagnosis is determined independently of the serum NfL concentration.