- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04881201
Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (MetaDLM_CMT2A)
Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (CMT2A) Linked to Mitofusin 2
Charcot-Marie-Tooth (CMT) disease is the commonest sensitivo-motor inherited peripheral neuropathies with a prevalence of about 10-30 per 100,000. To date, more than 80 genes have been found responsible for CMT. Some of these genes code for mitochondrial proteins such as mitofusin 2 (MFN2).
In the last few years, our laboratory has developed strong expertise in metabolomics. The MetaDLM_CMT2A project proposes to produce metabolomic and lipidomic maps in CMT2A plasma from a cohort of genetically and clinically characterized patients with a national recruitment.
In the perspective of future clinical trials, these biomarkers and the better understanding of lipid metabolism defects in CMT2A would be of major interest in monitoring the evolution of the disease and developing specific therapeutic approaches.
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Estimated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Julien Cassereau, MD
- Phone Number: 0033 2 41 35 79 33
- Email: JuCassereau@chu-angers.fr
Study Contact Backup
- Name: jeanne muller
- Phone Number: 0033 2 41 35 79 33
- Email: Jeanne.Muller@chu-angers.fr
Study Locations
-
-
Maine Et Loire
-
Angers, Maine Et Loire, France, 49933
- Recruiting
- CHU
-
Contact:
- Julien cassereau, MD-PhD
- Phone Number: 0033235417933
- Email: jucassereau@chu-angers.fr
-
Contact:
- jeanne muller
- Phone Number: 0033241357933
- Email: Jeanne.Muller@chu-angers.fr
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Description
Inclusion Criteria:
For all participants :
- Adult person
- Person on an empty stomach at the time of inclusion
- Person who signed the study participation consent form
- Person affiliated or beneficiary of a social security scheme
Patients Charcot-Marie-Tooth :
- Patient with symptoms of Charcot-Marie-Tooth disease on clinical examination clinical examination
- Patient with axonal neuropathy confirmed by an electrophysiological study electrophysiological study with a median nerve conduction velocity > 38 m / s
- Patient with documented pathogenic mutation (class 4 or class 5) in the MFN2 or patient with a variant of uncertain significance, as determined by the laboratory performing the test, if the variant of unknown significance has been found in found in multiple affected individuals in a family and not found in unaffected family members in unaffected family members.
Control subject :
- Each control is matched in age and sex to a case previously included in the study.
Exclusion Criteria:
For all participants :
- Pregnant, breastfeeding or parturient woman
- Person deprived of liberty by judicial or administrative decision
- Person subject to forced psychiatric care
- Person subject to a legal protection measure
- Person unable to give consent
Patients Charcot-Marie-Tooth :
- Patient with a neuropathy other than CMT2A (such as diabetic neuropathy or any other cause of acquired neuropathy) neuropathy or any other cause of acquired neuropathy), medical history of kidney stones kidney stones or cardiovascular risk factors (dyslipidaemia diabetes, severe obesity (BMI >35 kg/m²))
- Patient treated with Idebenone at the time of inclusion. (It is possible to include a patient treated with Idebenone if the treatment was interrupted at least 5 days before)
Control subject :
- Person with neuropathy, medical history of kidney stones or cardiovascular risk factors cardiovascular risk factors (dyslipidaemia, diabetes, severe obesity (BMI >35 kg/m²))
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Other
- Allocation: Non-Randomized
- Interventional Model: Parallel Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Other: Control subjects
|
blood sample
|
Other: Patients Charcot-Marie-Tooth
|
blood sample
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Compare the metabolomics and lipidomics of CMT2A patients compared to witnesses using high resolution mass spectrometry
Time Frame: at enrollment
|
We will compare the metabolomics and lipidomics of CMT2A patients compared to controls using high resolution mass spectrometry, by comparing the presence or not of the metabolites sought thanks to thetechnology developed by the company Biocrates (MxP-Quant-500 kit), allowing testing of 630 polar and lipid metabolites, under conditions close to medical biology.
|
at enrollment
|
Collaborators and Investigators
Sponsor
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Nervous System Diseases
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Neuromuscular Diseases
- Stomatognathic Diseases
- Neurodegenerative Diseases
- Peripheral Nervous System Diseases
- Heredodegenerative Disorders, Nervous System
- Nervous System Malformations
- Polyneuropathies
- Tooth Diseases
- Nerve Compression Syndromes
- Charcot-Marie-Tooth Disease
- Hereditary Sensory and Motor Neuropathy
Other Study ID Numbers
- 2021-A00834-34
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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