Interest of Measuring P2X4 Receptors on Blood Monocytes as a Diagnostic Marker in Amyotrophic Lateral Sclerosis: P2X4 as a Diagnostic Biomarker for ALS

NCT07091799 | Recruiting

• 1 other identifier: CHUBX 2024/82
• Study Type: interventional
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease and is characterized by the degeneration of motor neurons leading to progressive paralysis and death within 3 to 5 years after diagnosis. To date, no key mechanism had been identified. Our associated laboratory has identified the P2X4 purinergic pathway that appears to be involved in the pathogenesis of ALS. Our goal is to verify these results at the human level in order to have a proof of concept of P2X4's role as a biomarker of the disease.

Conditions

Amyotrophic Lateral Sclerosis &Amp; Other Neuromuscular Disorders

Keywords

P2X4; diagnostic biomarker; purinergic pathway

Outcome Measures

Primary Outcomes (1)

• Expression of P2X4 receptor

  Compare expression of P2X4 receptor in ALS patients versus healthy subjects to demonstrate its role as a clinical biomarker of ALS. Comparison will be obtained by labeling and flow cytometer analysis of circulating monocytes.

  6 months after Day 0

Secondary Outcomes (5)

• Diagnostic performance

  6 months after Day 0

• Prognostic performances

  6 months after Day 0

• P2X4 receptor levels evolution

  6 months after Day 0

• Levels of P2X4 receptors between patients with familial or sporadic ALS.

  6 months after Day 0

• P2X4 receptor levels of patients with a SOD1 mutation treated with anti-SOD1antisense

  6 months after Day 0

Study Arms (2)

ALS patient

EXPERIMENTAL

During the inclusion visit on D0, which will take place during a consultation or a hospitalization scheduled as part of the standard of care, patients will be informed about the protocol and their informed consent will be obtained. A neurological clinical examination will be performed, the ALSFRS-R score will be evaluated, as well as respiratory functional explorations and a standard biology assessment. As part of the research, an additional blood sample will be taken. For ALS patients, a follow-up visit will be performed at 6 months as part of their follow-up consultation at the ALS center. The same examinations as on D0 will be done.

Diagnostic Test: P2X4 receptors in blood samples

Standard : healthy subjects

OTHER

During the inclusion visit on D0, which will take place during a consultation or a hospitalization scheduled as part of the standard of care. A neurological clinical examination will be performed, the ALSFRS-R score will be evaluated, as well as respiratory functional explorations and a standard biology assessment. As part of the research, an additional blood sample will be taken. For healthy subjects, a follow-up visit will be performed at 6 months. The same examinations as on D0 will be done.

Diagnostic Test: P2X4 receptors in blood samples

Interventions

P2X4 receptors in blood samples DIAGNOSTIC_TEST

This is an interventional study designed to assay P2X4 receptors in blood samples from ALS patients and healthy volunteers by comparing the mean levels of P2X4 expression.

ALS patient; Standard : healthy subjects

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• For ALS group: Person presenting a probable or confirmed diagnosis of ALS according to the criteria of EI Escorial.
• Adult.
• Person affiliated or beneficiary of a social security scheme.
• Free, informed and written consent signed by the participant or by a third person (in case of physical incapacity of the participant), after information on the study.

You may not qualify if:

• People undergoing immunosuppressive or corticosteroid treatments.
• Participation in a research protocol with an experimental treatment.
• People placed under guardianship, curatorship or legal protection.
• For healthy volunteer, people directly related to the patient (siblings, descendants and ancestry).

Sponsors & Collaborators

• University Hospital, Bordeaux: lead

Study Sites (1)

Hôpital Pellegrin

Bordeaux, 33000, France

RECRUITING

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; TDP-43 Proteinopathies; Neuromuscular Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Gwendal Le Masson, Pr

CONTACT

05 57 82 13 70; gwendal.le-masson@chu-bordeaux.fr

Claire Fremy

CONTACT

claire.fremy@chu-bordeaux.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 25, 2025
• First Posted: July 29, 2025
• Study Start: January 15, 2026
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): July 1, 2027
• Last Updated: January 21, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)