Serum Neurofilaments in the Diagnosis of Amyotrophic Lateral Sclerosis

NCT07706270 | Not Yet Recruiting

• 2 other identifiers: RECHMPL22_00752022-A01792-41
• Study Type: observational
• Target: 138
• Locations: 0 countries
• Sites: N/A

Brief Summary

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.

Conditions

Amyotrophic Lateral Sclerosis (ALS); Neurodegenerative Disorders; Motor Neuron Diseases

Keywords

amyotrophic lateral sclerosis; neurofilament proteins; glial fibrillary acid protein; early diagnosis

Outcome Measures

Primary Outcomes (1)

• Evaluate the diagnostic performance of blood NfL levels for the diagnosis of ALS

  Evaluate the diagnostic performance of blood NfL levels for the diagnosis of ALS. Evaluation of the diagnostic performance of NfL blood levels (pg/mL) on samples taken during the patient inclusion visit. The final diagnosis will be established independently of the serum NfL levels at inclusion. The ALS diagnosis will be made according to the revised El Escorial criteria, which distinguish between definite, probable, clinically probable with paraclinical support, or possible ALS diagnoses.

  From baseline (Visit 0) up to 12 months

Secondary Outcomes (4)

• Functional decline

  From enrollment to the end of follow-up, at least every 3 months during routine clinical care.

• Respiratory function

  From enrollment to the end of follow-up, at least every 3 months during routine clinical care.

• Initiation of non-invasive ventilation

  From enrollment to the end of follow-up, at least every 3 months during routine clinical care.

• Overall survival

  From enrollment to the end of follow-up, at least every 3 months during routine clinical care.

Study Arms (1)

Patients Suspected of ALS

This group of patients includes those with a suspected diagnosis of ALS and referred to the CHU Montpellier reference center. The study focuses on measuring serum levels of neurofilament light (NfL), a biomarker of neuronal damage, to assess its ability to diagnose ALS and predict disease progression, survival and timing of initiation of non-invasive ventilation (NIV).

Diagnostic Test: Serum Neurofilament Serum NfL Measurement

Interventions

Serum Neurofilament Serum NfL Measurement DIAGNOSTIC_TEST

The procedure involves taking an additional 6 ml blood sample (dry tube) during the first visit, in addition to the routine sample taken for diagnostic investigations. Serum levels of neurofilament light chain (NfL), a biomarker of neuronal damage, will be measured using ultrasensitive techniques (SIMOA, Lumipulse, Cobas). The aim is to assess the diagnostic performance of NfL levels in differentiating ALS from other neurodegenerative diseases, as well as their prognostic value in terms of survival and disease progression.

Patients Suspected of ALS

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

The study population consists of all patients referred to the rare disease reference center for amyotrophic lateral sclerosis (ALS) at CHU Montpellier for suspected ALS, regardless of the final diagnosis. These patients will be included prospectively as part of the diagnostic evaluation. The inclusion will be based on clinical suspicion of ALS, and the final diagnosis will be established according to the revised El Escorial criteria, independent of the NfL serum levels. This population will be monitored and analyzed for diagnostic performance and prognostic value of serum NfL levels.

You may qualify if:

• Be at least 18 years of age
• Be able to undergo blood sampling (however, blood sampling is part of the standard examination and will not be performed exclusively for this study).
• Patients with suspected ALS

You may not qualify if:

• Patients with recent stroke
• Pregnant or breast-feeding women
• Patient deprived of liberty by judicial or administrative decision, or hospitalization under duress
• Adult protected by law (guardianship, curatorship)
• Patient unable to understand and read information and consent forms in French
• Failure to obtain written informed consent after a period of reflection
• Not affiliated to a social security scheme or beneficiary of such a scheme
• Person unable to give consent

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis; Neurodegenerative Diseases; Motor Neuron Disease; Disease

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; TDP-43 Proteinopathies; Neuromuscular Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Elisa DE LA CRUZ, MD

  University Hospital, Montpellier

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Elisa DE LA CRUZ, MD

CONTACT

04 67 33 02 81; e-delacruz@chu-montpellier.fr

Florence ESSELIN, MD

CONTACT

04 67 33 75 05; f-esselin@chu-montpellier.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 10, 2026
• First Posted: July 15, 2026
• Study Start: August 1, 2026
• Primary Completion (Estimated): August 1, 2027
• Study Completion (Estimated): August 1, 2028
• Last Updated: July 20, 2026

Record last verified: 2026-07