Amyotrophic Lateral Sclerosis
Conditions
Keywords
Amyotrophic Lateral Sclerosis, Metabolomics, Transcriptomics, Biomarkers, Fibroblast
Brief 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.
Detailed description
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.
Interventions
OTHERSamples
Blood sample, skin biopsy
OTHERIndirect calorimetry
Measurement of energy expenditure by indirect calorimetry
Measurement of electrical bioimpedance
Sponsors
University Hospital, Tours
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
HEALTH_SERVICES_RESEARCH
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 75 Years
Healthy volunteers
Yes
Inclusion 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Metabolic signature of fibroblast : concentrations of molecules detected by mass spectrometry | Baseline | The metabolomic profile of fibroblast represents the combination of the different molecules detected/quantified by mass spectrometry |
| Metabolic signature of blood : concentrations of molecules detected by mass spectrometry | Baseline | The metabolomic profile of blood represents the combination of the different molecules detected/quantified by mass spectrometry |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Expression levels of targeted molecules using transcriptomics | Baseline | Choice of molecules based on results obtained by metabolomics approaches |
Countries
France
Outcome results
None listed