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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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. |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Diagnostic performance | Evaluate the diagnostic performances of P2X4 receptor assay for the diagnosis of ALS, thanks to sensitivity and specificity of this P2X4 receptor assay | 6 months after Day 0 |
| Prognostic performances |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Gwendal Le Masson, Pr | Contact | 05 57 82 13 70 | +33 | gwendal.le-masson@chu-bordeaux.fr |
| Claire Fremy | Contact | claire.fremy@chu-bordeaux.fr |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Pellegrin | Recruiting | Bordeaux | 33000 | France |
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Evaluate prognostic performances of P2X4 receptor assay for the diagnosis of ALS, thanks to sensitivity and specificity of this P2X4 receptor assay
| 6 months after Day 0 |
| P2X4 receptor levels evolution | Describe evolution of P2X4 receptor levels with a new sample at 6 months in the same patients, thanks to the difference in P2X4 receptor expression average in the same ALS patient | 6 months after Day 0 |
| Levels of P2X4 receptors between patients with familial or sporadic ALS. | Compare expression levels of P2X4 receptors between patients with familial or sporadic ALS, thanks to the difference in P2X4 receptor expression average | 6 months after Day 0 |
| P2X4 receptor levels of patients with a SOD1 mutation treated with anti-SOD1antisense | Compare surface P2X4 receptor levels of patients with a SOD1 mutation treated with anti-SOD1 antisense (Qalsody®, TOFERSEN), thanks to the difference in P2X4 receptor expression average | 6 months after Day 0 |
| ID | Term |
|---|---|
| D000690 | Amyotrophic Lateral Sclerosis |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
| D019636 | Neurodegenerative Diseases |
| D057177 | TDP-43 Proteinopathies |
| D009468 | Neuromuscular Diseases |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |
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