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

University Hospital of Bordeaux

Status: Enrolling

Conditions: Amyotrophic Lateral Sclerosis &Amp; Other Neuromuscular Disorders

Treatments: Diagnostic Test: P2X4 receptors in blood samples

Study type: Interventional

Funder types: Other

Identifiers

NCT07091799

CHUBX 2024/82

Details and patient eligibility

About

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.

Enrollment: 50 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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).

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Crossover Assignment

Masking: None (Open label)

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50 participants in 2 patient groups

ALS patient

Experimental group

Description:

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.

Treatment:

Diagnostic Test: P2X4 receptors in blood samples

Standard : healthy subjects

Other group

Description:

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.

Treatment:

Diagnostic Test: P2X4 receptors in blood samples