new therapeutic strategy in als based on metabolic status and associated metabolic pathways.

Conditions: Amyotrophic Lateral Sclerosis

Summary: amyotrophic lateral sclerosis (als) is a neurodegenerative disease that affects central and peripheral motor neurons. none of the clinical trials conducted have been clearly successful and the disease remains incurable, putting patients' vital prognosis at risk in the medium term. an alteration of the basal metabolism leading to hypermetabolism has been described in several articles in the literature. the causes of this hypermetabolism and the precise exploration of the metabolic pathways involved are still poorly understood. the fibroblasts of als patients may be the site of some metabolic disturbances in this disease with a hypothetical specific basal metabolic profile. these cells are adapted to different metabolic explorations such as omnic approaches. superficial skin biopsy followed by fibroblast culture can provide a considerable biobank. this cellular richness will allow us, in als patients and their controls, to perform metabolomic and lipidomic approaches, as well as the quantification transcriptomic approach."

amyotrophic lateral sclerosis (als) is a neurodegenerative disease that affects central and peripheral motor neurons. none of the clinical trials conducted have been clearly successful and the disease remains incurable, putting patients' vital prognosis at risk in the medium term. an alteration of the basal metabolism leading to hypermetabolism has been described in several articles in the literature. the causes of this hypermetabolism and the precise exploration of the metabolic pathways involved are still poorly understood. the fibroblasts of als patients may be the site of some metabolic disturbances in this disease with a hypothetical specific basal metabolic profile. these cells are adapted to different metabolic explorations such as omnic approaches. superficial skin biopsy followed by fibroblast culture can provide a considerable biobank. this cellular richness will allow us, in als patients and their controls, to perform experiments for the quantification of metabolites by metabolic and lipidomic approaches, as well as the quantification of mrnas and the rate of gene transcription by a transcriptomic approach.

Eligibility criteria:
case group selection criteria: inclusion criteria: * age ≥ 18 years and ≥ 75 years * als according to the el escorial criteria * diagnosis of als \< 6 months * symptoms onset \< 2 years * patients affiliated to social security scheme * informed consent signed by the patient exclusion criteria: * pregnant or breastfeeding women * contraindication to biopsy * contraindication to local anesthesia * treatment with oral or injectable anticoagulants, antiplatelet (except aspirin) * unbalanced diabetes * systemic corticosteroid treatment * dermatological diseases of the fibroblast * skin cancer * protection measure for guardianship or curatorship control group selection criteria: inclusion criteria: * age ≥ 18 years and ≥ 75 years * no neuronal disease * patients affiliated to social security scheme * informed consent signed by the patient exclusion criteria: * pregnant or breastfeeding women * contraindication to biopsy * treatment with oral or injectable anticoagulants, antiplatelet (except aspirin) * unbalanced diabetes * systemic corticosteroid treatment * dermatological diseases of the fibroblast * skin cancer * protection measure for guardianship or curatorship

Keywords: amyotrophic lateral sclerosis metabolomics transcriptomics biomarkers fibroblast