DIAGALS: Relation Between Tar DNA Binding Protein(TDP)-43 et Nrf-2 in ALS: a Track to Improve Diagnosis and Prognosis of the Disease

DIAGALS: Relation Between TDP-43 et Nrf-2 in ALS: a Track to Improve Diagnosis and Prognosis of the Disease: Prospective, Bicentric, Non-randomized, Open-label Study

In response to oxidative stress, cells activate the Nrf-2 pathway, which induces translation of its target genes and corresponding proteins involved in the antioxidant response. This explains the interest in the Nrf-2 pathway in the pathophysiology of Amyotrophic lateral sclerosis (ALS), supported by the results of several studies and the modulatory effect of TDP-43 on the Nrf-2 pathway. Since both TDP-43 and Nrf-2 proteins are present in the peripheral blood mononuclear cells (PBMC) of ALS patients and may be correlated with disease progression, the investigators wish to explore their relationship and their application in the clinic as potential blood biomarkers for ALS.

Patients group :

Inclusion Criteria:

• Men and women ≥ 18 years old
• Person affiliated to a French social security scheme or equivalent
• ALS diagnosed according to El Escorial criteria
• Diagnosis of ALS < 6 months
• Onset of symptoms < 2 years
• Signed informed consent

Non-inclusion criteria :

• Pregnant or breast-feeding
• Treatment with oral or injectable anticoagulants, antiplatelet agents (EXCEPT aspirin at the maximum authorized dosage of 160 mg per day)
• Unbalanced diabetes
• Long-term corticosteroid therapy
• Persons deprived of their liberty by judicial or administrative decision; Persons under legal protection: guardianship or curators
• Genetic mutations associated with ALS

Control group :

Inclusion criteria:

• Male or female volunteer aged 18 or over
• Person affiliated to a French social security scheme or equivalent
• Signed informed consent

Non-inclusion criteria :

• Pregnant or breast-feeding women
• Treatment with oral or injectable anticoagulants, antiplatelet agents (except aspirin at the maximum authorized dosage of 160 mg per day)
• Unbalanced diabetes
• Long-term corticosteroid therapy
• Neurological diseases
• Patient under legal protection (safeguard of justice, curators and guardianship), or in a situation of deprivation of liberty
• Genetic mutations associated with ALS