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Muscular Biomarkers in Amyotrophic Lateral Sclerosis (METABOMU)

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ClinicalTrials.gov Identifier: NCT02670226
Recruitment Status : Recruiting
First Posted : February 1, 2016
Last Update Posted : October 26, 2017
Sponsor:
Information provided by (Responsible Party):
University Hospital, Tours

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.

Condition or disease Intervention/treatment Phase
Amyotrophic Lateral Sclerosis Other: Samples Not Applicable

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

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 40 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Health Services Research
Official Title: Metabolomics and Transcriptomics Approaches to Identify Muscular Biomarkers in Amyotrophic Lateral Sclerosis
Study Start Date : March 2016
Estimated Primary Completion Date : December 2019
Estimated Study Completion Date : December 2019


Arm Intervention/treatment
Case group
The intervention, specific to the study, is to take samples at baseline on patients with Amyotrophic Lateral Sclerosis
Other: Samples
Blood samples, muscle biopsy

Control group
The intervention, specific to the study, is to take samples at baseline on patients without neurological disease
Other: Samples
Blood samples, muscle biopsy




Primary Outcome Measures :
  1. Metabolic signature of muscle [ Time Frame: At baseline ]
    Metabolomics profile using NMR and LC-HRMS

  2. Metabolic signature of blood [ Time Frame: At baseline ]
    Metabolomics profile using NMR and LC-HRMS

  3. Metabolic signature of satellites cells [ Time Frame: At baseline ]
    Metabolomics profile using NMR and LC-HRMS


Secondary Outcome Measures :
  1. Expression levels of targeted genes using transcriptomics [ Time Frame: At baseline ]
    Choice of genes based on results obtained by metabolomics approaches



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Ages Eligible for Study:   18 Years to 75 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

Case group selection 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

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:

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
  • Treatment against cramps or twitching may affect muscle metabolism

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02670226


Contacts
Contact: Hélène BLASCO, MD +33(0)2.34.37.89.11 helene.blasco@univ-tours.fr

Locations
France
Service de chirurgie orthopédique et traumatologique, CHRU de TOURS Completed
Tours, France, 37044
Service de Neurologie, CHRU de TOURS Recruiting
Tours, France, 37044
Sub-Investigator: Philippe CORCIA, MD-PhD         
Principal Investigator: Ilyess ZEMMOURA, MD         
Sponsors and Collaborators
University Hospital, Tours
Investigators
Study Director: Hélène BLASCO, MD helene.blasco@univ-tours.fr

Responsible Party: University Hospital, Tours
ClinicalTrials.gov Identifier: NCT02670226     History of Changes
Other Study ID Numbers: PHAO15-HB-METABOMU
2015-A01629-40 ( Other Identifier: IdRCB )
151550B-31 ( Other Identifier: ASNM )
2016-R3 ( Other Identifier: CPP )
First Posted: February 1, 2016    Key Record Dates
Last Update Posted: October 26, 2017
Last Verified: October 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by University Hospital, Tours:
Amyotrophic Lateral Sclerosis
Muscle metabolism
Metabolomics
Transcriptomics

Additional relevant MeSH terms:
Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Spinal Cord Diseases
Central Nervous System Diseases
Metabolic Diseases
Sclerosis
Pathologic Processes
TDP-43 Proteinopathies
Proteostasis Deficiencies