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

University Hospital, Bordeaux50 enrolled

Overview

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.

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

DIAGNOSTIC

Masking

NONE

Enrollment

Conditions

Amyotrophic Lateral Sclerosis &Amp; Other Neuromuscular Disorders

Interventions

Eligibility

Sex: ALLMin age: 18 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * 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. Exclusion Criteria: * 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).

Outcomes

Primary Outcomes

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.