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

NCT07737977 | Not Yet Recruiting

• 1 other identifier: RECHMPL25_0323
• Study Type: observational
• Target: 200
• Locations: 2 countries
• Sites: 2

Brief Summary

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.

Conditions

ALS (Amyotrophic Lateral Sclerosis)

Keywords

ALS; Biomarkers; Amyotrophic Lateral Sclerosis; Diagnosis; Prognosis; Disease Progression; Patient Stratification; Blood Biomarkers; Motor Neuron Disease; Neurodegeneration

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

patients with ALS

ALS patients under follow-up

Other: peripheral venous blood collection; Other: collection of medical data related to patient care

Interventions

peripheral venous blood collection OTHER

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

patients with ALS

collection of medical data related to patient care OTHER

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

patients with ALS

Eligibility Criteria

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

You may qualify if:

• 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.

You may not qualify if:

• 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).

Sponsors & Collaborators

• University Hospital, Montpellier: lead
• Hospital Universitari Vall d'Hebron Research Institute: collaborator

Study Sites (2)

Montpellier University Hospital

Montpellier, Occitanie, 34295, France

Location

Hospital Universitari Vall D'Hebron

Barcelona, 08035, Spain

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples will be collected and retained for serum, DNA, and RNA analyses. Three peripheral blood tubes will be collected from each participant for serum, genomic DNA, and RNA extraction. Samples will be processed, anonymized, and stored under controlled conditions prior to biomarker analyses, including genetic, proteomic, lipidomic, and molecular studies related to amyotrophic lateral sclerosis (ALS).

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis; Disease; Disease Progression; Motor Neuron Disease; Nerve Degeneration

Condition Hierarchy (Ancestors)

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

Study Officials

• Florence ESSELIN, MD

  University Hospital, Montpellier

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Florence ESSELIN, MD

CONTACT

04 67 33 09 56; motoneuronerech@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 27, 2026
• First Posted: July 30, 2026
• Study Start (Estimated): August 1, 2026
• Primary Completion (Estimated): February 1, 2029
• Study Completion (Estimated): August 1, 2029
• Last Updated: July 30, 2026

Record last verified: 2026-07

Locations

ES (1); FR (1)