Muscular Biomarkers in Amyotrophic Lateral Sclerosis

NCT ID: NCT02670226

Last Updated: 2025-12-22

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 37 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2016-03-29
• Study Completion Date: 2019-12-09

Brief Summary

The first objective is to find some biomarkers, or a profile of biomarkers of ALS to help to diagnosis. The second objective is to better understand the pathogenesis of this disease by the exploration of muscle, blood and satellite cells metabolomes and transcriptomes.

Detailed Description

Amyotrophic Lateral Sclerosis (ALS), the most common MND, is a fatal adult-onset neuromuscular disease. Due to clinical heterogeneity and absence of biological tools to diagnose ALS, the delay between the first symptoms and diagnosis averages 9-13 months. A group of pathophysiological processes, including oxidative stress and glutamate-mediated excitotoxicity contribute to cell death, but the triggering factor, the timing and the interaction of different cellular events await elucidation [2]. Unknown pathogenesis for most patients means few available treatments. The search for biomarkers that can aid diagnosis, characterize phenotype, define pathophysiology, identify endpoints in trials and measure disease progression is of utmost importance for the field. Some studies have advocated that muscle per se may be impaired by pathogenesis of the diseases. Muscle has been poorly studied and its central role in energetic metabolism suggests that this tissue, quite easily available, should be more analyzed to find biomarkers and to compare muscular metabolism with those of brain and overall body. Specific aims of our subjects are:

Specific aims are focused on:

1. the acquisition of metabolites profiles of the muscle, blood and satellite cells using an analytical platform enable a deep exploration. For that, the use of three analytical modalities (NMR, mass spectrometry coupled to GC or UPLC) ensures the best coverage of the metabolite population with a high range of concentration variability and molecular diversity.

2. the building of metabolites profiles models that discriminate pathological and control situations.

3. the identification of metabolites implicated in the discriminant model.

4. the generation of metabolism pathways hypothesis related to the discriminant model.

5. the acquisition of transcriptomics data to confirm and add complementary results to metabolomics data

Conditions

Amyotrophic Lateral Sclerosis

Keywords

Amyotrophic Lateral Sclerosis; Muscle metabolism; Metabolomics; Transcriptomics

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: HEALTH_SERVICES_RESEARCH
• Blinding Strategy: NONE

Study Groups

Case group

The intervention, specific to the study, is to take samples at baseline on patients with Amyotrophic Lateral Sclerosis

Group Type: OTHER

Samples

Intervention Type: OTHER

Blood samples, muscle biopsy

Control group

The intervention, specific to the study, is to take samples at baseline on patients without neurological disease

Group Type: OTHER

Samples

Intervention Type: OTHER

Blood samples, muscle biopsy

Interventions

Samples

Blood samples, muscle biopsy

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Age ≥ 18 years and ≥ 75 years
• ALS according to the El Escorial criteria
• Patients affiliated to social security scheme
• Informed consent signed by the patient

• 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
• Contraindication to local anesthesia
• Treatment with oral or injectable anticoagulants, antiplatelet (except aspirin)
• Unbalanced Diabetes
• Systemic corticosteroid treatment
• Treatment against cramps or twitching may affect muscle metabolism

Control group selection criteria:

• Pregnant or breastfeeding women
• Contraindication to biopsy
• Treatment with oral or injectable anticoagulants, antiplatelet (except aspirin)
• Unbalanced Diabetes
• Systemic corticosteroid treatment
• Treatment against cramps or twitching may affect muscle metabolism

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 75 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

University Hospital, Tours

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Hélène BLASCO, MD

Role: STUDY_DIRECTOR

helene.blasco@univ-tours.fr

Locations

Service de chirurgie orthopédique et traumatologique, CHRU de TOURS

Tours, , France

Service de Neurologie, CHRU de TOURS

Tours, , France

Countries

France

References

Lanznaster D, Bruno C, Bourgeais J, Emond P, Zemmoura I, Lefevre A, Reynier P, Eymieux S, Blanchard E, Vourc'h P, Andres CR, Bakkouche SE, Herault O, Favard L, Corcia P, Blasco H. Metabolic Profile and Pathological Alterations in the Muscle of Patients with Early-Stage Amyotrophic Lateral Sclerosis. Biomedicines. 2022 Jun 2;10(6):1307. doi: 10.3390/biomedicines10061307.

Reference Type: RESULT

PMID: 35740329 (View on PubMed)

Other Identifiers

2015-A01629-40

Identifier Type: OTHER

Identifier Source: secondary_id

151550B-31

Identifier Type: OTHER

Identifier Source: secondary_id

2016-R3

Identifier Type: OTHER

Identifier Source: secondary_id

PHAO15-HB-METABOMU

Identifier Type: -

Identifier Source: org_study_id