New Therapeutic Strategy in ALS Based on Metabolic Status and Associated Metabolic Pathways. (METABOCALS)

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."

Study Overview

• Status: Completed
• Conditions: Amyotrophic Lateral Sclerosis
• Intervention / Treatment: Other: Samples; Other: Indirect calorimetry; Other: Electrical bioimpedance

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.

• Study Type: Interventional
• Enrollment (Actual): 9
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Limoges, France, 87042
    • Neurology Department, University Hospital, Limoges
  • Tours, France, 37044
    • Neurology Department, University Hospitla, Tours

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 75 years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Health Services Research
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Case group; The intervention, specific to the study, is to take samples at baseline on patients with Amyotrophic Lateral Sclerosis	Other: Samples; Blood sample, skin biopsy; Other: Indirect calorimetry; Measurement of energy expenditure by indirect calorimetry; Other: Electrical bioimpedance; Measurement of electrical bioimpedance
Other: Control group; The intervention, specific to the study, is to take samples at baseline on patients without neurological disease	Other: Samples; Blood sample, skin biopsy

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Expression levels of targeted molecules using transcriptomics	Choice of molecules based on results obtained by metabolomics approaches	Baseline

Collaborators and Investigators

• Sponsor: University Hospital, Tours
• Investigators: Study Director: Hélène BLASCO, MD-PhD, University Hospital, Tours

Study record dates

Study Major Dates

• Study Start (Actual): January 27, 2020
• Primary Completion (Actual): January 10, 2023
• Study Completion (Actual): March 5, 2024

Study Registration Dates

• First Submitted: June 4, 2019
• First Submitted That Met QC Criteria: June 12, 2019
• First Posted (Actual): June 13, 2019

Study Record Updates

• Last Update Posted (Actual): December 30, 2025
• Last Update Submitted That Met QC Criteria: December 23, 2025
• Last Verified: December 1, 2025

More Information

Terms related to this study

• Keywords: Amyotrophic Lateral Sclerosis; Metabolomics; Biomarkers; Transcriptomics; Fibroblast
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Metabolic Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Motor Neuron Disease; Nutritional and Metabolic Diseases; Amyotrophic Lateral Sclerosis; Health Care Quality, Access, and Evaluation; Investigative Techniques; Epidemiologic Methods; Health Care Evaluation Mechanisms; Quality of Health Care; Public Health; Environment and Public Health; Chemistry Techniques, Analytical; Epidemiologic Study Characteristics; Calorimetry; Sampling Studies; Calorimetry, Indirect
• Other Study ID Numbers: DR180135; 2019-A00649-48 (Other Identifier: IdRCB)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No