Amyotrophic Lateral Sclerosis &Amp; Other Neuromuscular Disorders
Conditions
Keywords
P2X4, diagnostic biomarker, purinergic pathway
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.
Interventions
DIAGNOSTIC_TESTP2X4 receptors in blood samples
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.
Sponsors
University Hospital, Bordeaux
Study design
Allocation
NON_RANDOMIZED
Intervention model
CROSSOVER
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
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).
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Expression of P2X4 receptor | 6 months after Day 0 | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Diagnostic performance | 6 months after Day 0 | Evaluate the diagnostic performances of P2X4 receptor assay for the diagnosis of ALS, thanks to sensitivity and specificity of this P2X4 receptor assay |
| Prognostic performances | 6 months after Day 0 | Evaluate prognostic performances of P2X4 receptor assay for the diagnosis of ALS, thanks to sensitivity and specificity of this P2X4 receptor assay |
| P2X4 receptor levels evolution | 6 months after Day 0 | 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 |
| Levels of P2X4 receptors between patients with familial or sporadic ALS. | 6 months after Day 0 | Compare expression levels of P2X4 receptors between patients with familial or sporadic ALS, thanks to the difference in P2X4 receptor expression average |
| P2X4 receptor levels of patients with a SOD1 mutation treated with anti-SOD1antisense | 6 months after Day 0 | 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 |
Countries
France
Contacts
CONTACTClaire Fremy
CONTACTGwendal Le Masson, Pr
Outcome results
None listed