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Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (MetaDLM_CMT2A)

Primary Purpose

Charcot-Marie-Tooth Disease Type 2A

Status

Recruiting

Phase

Not Applicable

Locations

France

Study Type

Interventional

Intervention

blood sample

About this trial

This is an interventional other trial for Charcot-Marie-Tooth Disease Type 2A

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesAccepts Healthy Volunteers

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))

Sites / Locations

CHURecruiting

Arms of the Study

Arm 1

Arm 2

Arm Type

Other

Arm Label

Patients Charcot-Marie-Tooth

Control subjects

Arm Description

Outcomes

Primary Outcome Measures

Compare the metabolomics and lipidomics of CMT2A patients compared to witnesses using high resolution mass spectrometry

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.

Secondary Outcome Measures

Full Information

NCT ID

NCT04881201

First Posted

April 27, 2021

Last Updated

September 19, 2023

Sponsor

University Hospital, Angers

1. Study Identification

Unique Protocol Identification Number

NCT04881201

Brief Title

Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (MetaDLM_CMT2A)

Official Title

Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (CMT2A) Linked to Mitofusin 2

Study Type

Interventional

2. Study Status

Record Verification Date

September 2023

Overall Recruitment Status

Recruiting

Study Start Date

January 5, 2022 (Actual)

Primary Completion Date

July 5, 2024 (Anticipated)

Study Completion Date

July 5, 2024 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

University Hospital, Angers

4. Oversight

Studies a U.S. FDA-regulated Drug Product

Studies a U.S. FDA-regulated Device Product

5. Study Description

Brief Summary

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Charcot-Marie-Tooth Disease Type 2A

7. Study Design

Primary Purpose

Other

Study Phase

Not Applicable

Interventional Study Model

Parallel Assignment

Masking

None (Open Label)

Allocation

Non-Randomized

Enrollment

60 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title

Patients Charcot-Marie-Tooth

Arm Type

Other

Arm Title

Control subjects

Arm Type

Other

Intervention Type

Procedure

Intervention Name(s)

blood sample

Intervention Description

blood sample

Primary Outcome Measure Information:

Title

Compare the metabolomics and lipidomics of CMT2A patients compared to witnesses using high resolution mass spectrometry

Description

Time Frame

at enrollment

10. Eligibility

Sex

All

Minimum Age & Unit of Time

18 Years

Accepts Healthy Volunteers

Eligibility Criteria

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))

Central Contact Person:

First Name & Middle Initial & Last Name or Official Title & Degree

Julien Cassereau, MD

Phone

0033 2 41 35 79 33

JuCassereau@chu-angers.fr

First Name & Middle Initial & Last Name or Official Title & Degree

jeanne muller

Phone

0033 2 41 35 79 33

Jeanne.Muller@chu-angers.fr

Facility Information:

Facility Name

CHU

City

Angers

State/Province

Maine Et Loire

ZIP/Postal Code

49933

Country

France

Individual Site Status

Recruiting

Facility Contact:

First Name & Middle Initial & Last Name & Degree

Julien cassereau, MD-PhD

Phone

0033235417933

jucassereau@chu-angers.fr

First Name & Middle Initial & Last Name & Degree

jeanne muller

Phone

0033241357933

Jeanne.Muller@chu-angers.fr

12. IPD Sharing Statement

Learn more about this trial

Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (MetaDLM_CMT2A)

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