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

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 Overview

• Status: Not yet recruiting
• Conditions: ALS (Amyotrophic Lateral Sclerosis)
• Intervention / Treatment: Other: peripheral venous blood collection; Other: collection of medical data related to patient care

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Florence ESSELIN, MD; Phone Number: +33 04 67 33 09 56; Email: motoneuronerech@chu-montpellier.fr

Study Locations

• France
  • Occitanie
    • Montpellier, Occitanie, France, 34295
      • Montpellier University Hospital
• Spain
  • Barcelona, Spain, 08035
    • Hospital Universitari Vall d'Hebron
    • Contact: Raúl Juntas Morales, MD PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

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).

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
patients with ALS; ALS patients under follow-up	Other: peripheral venous blood collection; collection of an additional 24 mL of blood following a routine blood draw; Other: collection of medical data related to patient care; collection 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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).	From baseline to 12 months

Collaborators and Investigators

• Sponsor: University Hospital, Montpellier
• Collaborators: Hospital Universitari Vall d'Hebron Research Institute
• Investigators: Principal Investigator: Florence ESSELIN, MD, University Hospital, Montpellier

Study record dates

Study Major Dates

• Study Start (Estimated): August 1, 2026
• Primary Completion (Estimated): February 1, 2029
• Study Completion (Estimated): August 1, 2029

Study Registration Dates

• First Submitted: July 27, 2026
• First Submitted That Met QC Criteria: July 27, 2026
• First Posted (Actual): July 30, 2026

Study Record Updates

• Last Update Posted (Actual): July 30, 2026
• Last Update Submitted That Met QC Criteria: July 27, 2026
• Last Verified: July 1, 2026

More Information

Terms related to this study

• Keywords: Prognosis; Amyotrophic Lateral Sclerosis; ALS; Motor Neuron Disease; Neurodegeneration; Disease Progression; Diagnosis; Biomarkers; Blood Biomarkers; Patient Stratification
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Pathologic Processes; Neuromuscular Diseases; Disease Attributes; Metabolic Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Disease; Disease Progression; Motor Neuron Disease; Amyotrophic Lateral Sclerosis; Nerve Degeneration
• Other Study ID Numbers: RECHMPL25_0323

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No