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| ID | Type | Description | Link |
|---|---|---|---|
| 2019-A00649-48 | Other Identifier | IdRCB |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Case group | Other | The intervention, specific to the study, is to take samples at baseline on patients with Amyotrophic Lateral Sclerosis |
|
| Control group | Other | The intervention, specific to the study, is to take samples at baseline on patients without neurological disease |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Samples | Other | Blood sample, skin biopsy |
| |
| Measure | Description | Time Frame |
|---|---|---|
| Metabolic signature of fibroblast : concentrations of molecules detected by mass spectrometry | The metabolomic profile of fibroblast represents the combination of the different molecules detected/quantified by mass spectrometry | Baseline |
| Metabolic signature of blood : concentrations of molecules detected by mass spectrometry | The metabolomic profile of blood represents the combination of the different molecules detected/quantified by mass spectrometry | Baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Expression levels of targeted molecules using transcriptomics | Choice of molecules based on results obtained by metabolomics approaches | Baseline |
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Case group selection criteria:
Inclusion Criteria:
Exclusion Criteria:
Control group selection criteria:
Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Hélène BLASCO, MD-PhD | University Hospital, Tours | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Neurology Department, University Hospital, Limoges | Limoges | 87042 | France | |||
| Neurology Department, University Hospitla, Tours |
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| 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 |
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| ID | Term |
|---|---|
| D012494 | Sampling Studies |
| D002153 | Calorimetry, Indirect |
| ID | Term |
|---|---|
| D016020 | Epidemiologic Study Characteristics |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D017531 | Health Care Evaluation Mechanisms |
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| Indirect calorimetry |
| Other |
Measurement of energy expenditure by indirect calorimetry |
|
| Electrical bioimpedance | Other | Measurement of electrical bioimpedance |
|
| Tours |
| 37044 |
| France |
| D019636 | Neurodegenerative Diseases |
| D057177 | TDP-43 Proteinopathies |
| D009468 | Neuromuscular Diseases |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |
| D002151 | Calorimetry |
| D002623 | Chemistry Techniques, Analytical |