Characterization of Platelet Molecular Profiles in ALS for the Identification of Specific Diagnostic Biomarkers - A Pilot Study (SLA-PlaQ)

March 12, 2026 updated by: University Hospital, Tours

The search for diagnostic biomarkers that can be used routinely is a major challenge to manage Amyotrophic lateral sclerosis (ALS) in order to characterize the pathophysiology and accelerate the management of the disease. Some non-specific biomarkers have been proposed (Neurofilaments, TDP-43) but their diagnostic value remains controversial. This study aims to identify ALS-specific platelet biomarkers using targeted and untargeted multi-omic approaches, in order to enable differential diagnosis between ALS and other motor neuron diseases.

Study Overview

Status

Not yet recruiting

Conditions

ALS (Amyotrophic Lateral Sclerosis)

Detailed Description

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive loss of motor neurons, leading to increasing muscle paralysis. The pathophysiology of ALS remains poorly understood, and the absence of a diagnostic test makes this disease a real challenge, requiring an average of 12 months before a reliable ALS diagnosis can be established. Yet, this disease progresses rapidly, leading to death on average 36 months after the onset of symptoms. The search for diagnostic biomarkers that can be used routinely is therefore a major challenge in order to characterize the pathophysiology and accelerate the management of the disease. To date, a few avenues have been explored, including the concentration in the blood or cerebrospinal fluid of neurofilaments, a protein that can be used to assess the progression of neuronal loss. This biomarker has shown some potential but is not specific to ALS and its diagnostic value remains controversial. In addition, the TDP-43 protein, involved in RNA metabolism, has been widely described as pathogenic in ALS. Indeed, its aggregation and modification of its localization are thought to be associated with motor neuron degeneration. Several studies have demonstrated the presence of this protein in platelets, suggesting their potential as a source of peripheral biomarkers. This project aims to identify platelet molecular biomarkers in ALS patients within three months of diagnosis, using targeted (TDP-43 and neurofilaments) and non-targeted (metabo-lipidomic, transcriptomic, and proteomic profiles) approaches. This multi-omic approach could reveal a complex, comprehensive, and specific signature of ALS. The results will allow us to evaluate the diagnostic and prognostic performance of platelet biomarkers, either on their own or in combination.

Study Type

Observational

Enrollment (Estimated)

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Name: Hélène BLASCO, Pr
Phone Number: +33 234378911
Email: helene.blasco@univ-tours.fr

Study Contact Backup

Name: Noémie EYRAUD
Phone Number: +33 247478060
Email: n.eyraud@chu-tours.fr

Study Locations

France
- - Limoges, France, 87000
    - University Hospital, Limoges
    - Principal Investigator:
      
      Philippe COURATIER, Pr
    - Contact:
      
      Philippe COURATIER, Pr
      
      Phone Number: +33 555056559
      
      Email: philippe.couratier@chu-limoges.fr
  - Lyon, France, 69000
    - University hospital, Lyon
    - Principal Investigator:
      
      Emilien BERNARD, Dr
    - Contact:
      
      Emilien BERNARD, Dr
      
      Phone Number: +33 +33472357218
      
      Email: emilien.bernard@chu-lyon.fr
  - Tours, France, 37044
    - University Hospital, Tours
    - Principal Investigator:
      
      Philippe Corcia, Pr
    - Contact:
      
      Philippe CORCIA, Pr
      
      Phone Number: +33 247473724
      
      Email: philippe.corcia@univ-tours.fr

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

Adult
Older Adult

Accepts Healthy Volunteers

Sampling Method

Non-Probability Sample

Study Population

Patients with ALS or another MND followed in 3 ALS centers

Description

Inclusion Criteria:

Patients with ALS:

Men or women aged 18 to 75
ALS diagnosed according to the El Escorial criteria
ALS diagnosis less than 3 months ago
Onset of symptoms defined as the time when muscle weakness was first observed by the patient less than 2 years ago

Controls with another motor neuron disease:

Men or women aged 18 to 75
Diagnosis of motor neuron disease < 3 months

Exclusion Criteria:

Genetic variants associated with ALS
Pregnant or breastfeeding women
Treatment with oral or injectable anticoagulants, antiplatelet agents (EXCEPT aspirin at the maximum authorized dosage of 160 mg per day)
Uncontrolled diabetes
Persons deprived of their liberty by judicial or administrative decision
Persons subject to legal protection measures: guardianship or curatorship
Opposition to data processing

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Number of groups / cohorts

Cohorts and Interventions

Group / Cohort
ALS patients Biological: A blood sample will be taken at the time of inclusion by increasing the volume taken for the health routine care.
control patients with another motor neuron disease Biological: A blood sample will be taken at the time of inclusion by increasing the volume taken for the health routine care.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Diagnostic potential of platelet biomarkers Time Frame: Enrollment (< 3 months post-diagnosis)	Platelet biomarkers will be sought using targeted (TDP-43) and non-targeted multiomics screening approaches (transcriptomic, proteomic, metabo-lipidomic). The identified biomarkers will be integrated into multivariate models to evaluate their diagnostic potential in distinguishing ALS from other motor neuron diseases (sensibility, specificity, positive or negative predictive value).	Enrollment (< 3 months post-diagnosis)

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Diagnostic performances of platelet biomarkers compared to plasma neurofilaments Time Frame: Enrollment (<3 months post-diagnosis)	Plasma neurofilament concentration will be measured in each participant's sample. Diagnostic potential of platelet biomarkers will be compared to that of plasma neurofilaments concentration. The platelet biomarkers previously identified and plasma neurofilament concentration will be integrated into multivariate models to evaluate and compare their diagnostic potential in distinguishing ALS from other motor neuron diseases.	Enrollment (<3 months post-diagnosis)
Relationships between platelet biomarkers, neurofilaments and clinical characteristics Time Frame: Enrollment (<3 months post-diagnosis)	To better understand the pathophysiology of ALS, relationships with clinical characteristics will be investigated: weight, height, medical history, ALSFRS-r, King's and Milano-Torino scales, Forced Vital Capacity, symptom onset, site of onset, age of onset and concomitant treatments.	Enrollment (<3 months post-diagnosis)
Discriminatory capacity of platelet molecular signatures Time Frame: Enrollment (<3 months post-diagnosis)	The capacity to discriminate distinct clinical endophenotype of ALS patients according to platelet molecular signatures will be evaluated using multivariate models.	Enrollment (<3 months post-diagnosis)
Prognostic value of platelets biomarkers at diagnosis on ALS functional rating scale (ALSFRS-R) score progression after one year Time Frame: Functional evolution between enrolment (<3months post-diagnosis) and 12 months	Capacity of platelet biomarkers measured within 3 months post-diagnosis to predict functional progression of ALS (i.e. the percentage change in ALSFRS-R score between diagnosis and one year later)	Functional evolution between enrolment (<3months post-diagnosis) and 12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Tours

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

April 1, 2026

Primary Completion (Estimated)

August 1, 2027

Study Completion (Estimated)

August 1, 2027

Study Registration Dates

First Submitted

March 3, 2026

First Submitted That Met QC Criteria

March 12, 2026

First Posted (Actual)

March 18, 2026

Study Record Updates

Last Update Posted (Actual)