Charcot-Marie-Tooth Disease Type 2ANCT04881201
Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (MetaDLM_CMT2A)
A study testing blood sample in people with Charcot-Marie-Tooth Disease Type 2A, run by University Hospital, Angers at 1 site in France.
Trial 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). Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Charcot-Marie-Tooth Disease Type 2A
- What is being tested?
- blood sample
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 47 participants
- Where
- 1 siteFrance
- Study dates
- 5 Jan 2022to 10 Jun 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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 :
Show all 11Show fewer
- 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.
Who cannot join
- 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
Show all 11Show fewer
- 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))
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
- Conditions
- Charcot-Marie-Tooth Disease Type 2A
- Being tested
- blood sample
- Medical subject headings
- Charcot-Marie-Tooth disease, Type 2A
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood sampleProcedure or surgery
blood sample
| Study group | Role | What they receive |
|---|---|---|
| Patients Charcot-Marie-Tooth | Other | Not described Receives: Procedure: blood sample |
| Control subjects | Other | Not described Receives: Procedure: blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: at enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 May 2021
- Study start5 Jan 2022
- Primary completion10 Jun 2024
- Study completion10 Jun 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Charcot-Marie-Tooth Disease Type 2AStudies of the same condition, open and under way.
- More trials run by University Hospital, AngersThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 47 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Angers
- Sponsor type
- Other government
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04881201
- Sponsor's protocol ID
- 2021-A00834-34
- Status last verified
- Dec 2024
- First submitted
- 27 Apr 2021
- Last updated
- 13 Dec 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (CMT2A) Linked to Mitofusin 2
- ClinicalTrials.gov ID
- NCT04881201
- Acronym / sponsor ID
- 2021-A00834-34
- Conditions
- Charcot-Marie-Tooth Disease Type 2A
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 47 participants (actual)
- Lead sponsor
- University Hospital, AngersOther government
- Study start
- 5 Jan 2022 (actual)
- Primary completion
- 10 Jun 2024 (actual)
- Study completion
- 10 Jun 2024 (actual)
- First posted
- 11 May 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients Charcot-Marie-Tooth | Other | Procedure: blood sample |
| Control subjects | Other | Procedure: blood sample |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (11 listed)
- 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
- Patient with symptoms of Charcot-Marie-Tooth disease on clinical examination clinical examination
Key exclusion criteria (11 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| blood sampleblood sample | Procedure or surgery | Control subjects, Patients Charcot-Marie-Tooth |
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Dec 2024.
- Individual participant dataSharing planned: No
Related trials for Charcot-Marie-Tooth Disease Type 2A
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingObservational study
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
Charcot Marie Tooth Disease
Not yet recruitingObservational study
Muscle MRI Fat Fraction Before Surgery to Predict Strength Recovery After Foot-Drop Surgery in Charcot-Marie-Tooth Disease
Foot Drop, Charcot-Marie-Tooth Disease Type 1A
RecruitingObservational study
Natural History Study for Charcot Marie Tooth Disease
Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth
RecruitingPhase 1/2
Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind, Placebo-controlled, Multicenter)
Charcot-Marie-Tooth Disease Type 1A
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing blood sample in people with Charcot-Marie-Tooth Disease Type 2A, run by University Hospital, Angers at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 11 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Compare the metabolomics and lipidomics of CMT2A patients compared to witnesses using high resolution mass spectrometry (time frame: at enrollment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Dec 2024.