Pilot Study to Evaluate Fatigue and Fatigability Profiles and Their Impact on Walking and Balance in Patients With Charcot-Marie-Tooth Type 1A Disease Using a Global Approach in Comparison to Healthy Volunteers (FatMobCMT1A)

February 16, 2026 updated by: University Hospital, Strasbourg, France

Charcot-Marie-Tooth disease type 1A is the most common form of inherited neuropathy that causes peripheral nerve damage in all four limbs. In addition to the well-known distal motor and sensory symptoms, fatigue is one of the most common symptoms reported by patients. However, there is very little scientific data on this topic. Fatigue is associated with changes in mobility and quality of life. This study investigates the magnitude and impact of fatigue on patients' sensory-motor function and mobility (standing and walking). Fatigue is a complex phenomenon. It is therefore essential to assess all the factors that may be at the origin of this symptom (perceived fatigue and fatigability) using innovative and robust assessment methods.

These methods are based on quantitative non-invasive neurophysiologic measures (electromyography and transcranial magnetic stimulation). The patients can quantify and identify more precisely the origin of fatigability (peripheral and central). This objective approach needs to be combined with the usual methods of measuring fatigue using valid and reliable patient-reported outcome measures. A quantitative measure of movement during walking must also be included to assess changes in fatigue during functional movement.

To quantify the proportion of fatigue associated with CMT1A, the investigators chose to compare data from patients with those of healthy subjects matched for age, height and lean body mass.

A better understanding of the role of fatigue in limiting walking and balance capacities in these patients will allow the investigators to refine the inpatient and outpatient management.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Not yet recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
44

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

  • France
      • Strasbourg, France, 67000
        • Pôle de médecine physique et de réadaptation, Hôpital de Hautepierre, Strasbourg Centre de référence des maladies neuromusculaires, Institut Universitaire de Réadaptation Clémenceau, Strasbourg
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Description

Inclusion criteria for patients:

  • Age ≥ 18 years and < 75 years
  • Patient with mCMT1A confirmed by genetic analysis (based on data recorded in the patient file)
  • Patient able to walk a minimum of 200 metres without a break, with or without equipment and/or technical aids (collected during questioning)
  • Patient able to get on and off a cycloergometer safely without assistance or with minimal assistance
  • Patient who has had a cardiological check-up before the stress test (ECG and cardiac ultrasound less than 6 months old) or for whom a check-up is scheduled before the inclusion
  • Patient affiliated to a health insurance scheme or beneficiary of such a scheme

Inclusion criteria for Healthy volunteers:

  • Age ≥ 18 years and < 75 years
  • Subject affiliated to or benefiting from a health insurance scheme
  • Subject who has had a cardiological work-up prior to stress testing (ECG and cardiac ultrasound less than 6 months old) or for whom a work-up is scheduled prior to the procedure.

Exclusion criteria for patients:

  • Patients with all other forms of neuropathy (HNPP, other types of CMT, secondary neuropathies)

  • Patients with any of the following

    • An associated neurological disease other than mCMT1A
    • Severe joint disease of the lower limbs
    • Contraindication to isokinetic testing
    • Contraindication to an exercise stress test and exercise reconditioning program
    • A contraindication to Transcranial Magnetic Stimulation (TMS) : epilepsy, intracranial metallic foreign body, hearing aid or cochlear implant, unstable skull bone fracture, deafness, etc.
  • Patients who have undergone lower limb surgery in the 12 months prior to inclusion or for whom lower limb surgery is scheduled during the participation period.
  • Pregnant or breastfeeding or planning to become pregnant within the next 4 months
  • BMI > 35 kg/m2
  • Patient unable to give informed consent, unable to understand informed information
  • Subject under court protection
  • Subject under guardianship or curatorship
  • Subject in a period of exclusion (determined by a previous or current study)

Exclusion criteria for healthy volunteers:

  • History of neurological disease
  • Severe joint damage in the lower limbs

  • Any of the following

    • Contraindication to isokinetic testing
    • A contraindication to an exercise stress test and an exercise reconditioning program
    • A contraindication to TMS: epilepsy, intracranial metallic foreign body, hearing aid or cochlear implant, unstable skull bone fracture, deafness, etc.
  • Any person who has undergone surgery on the lower limbs in the 12 months prior to inclusion, or for whom surgery on the lower limbs is scheduled during the participation period.
  • Pregnant or breastfeeding, or planning to become pregnant within the next 4 months
  • Person unable to give informed consent, unable to understand informed information
  • BMI > 35 kg/m2
  • Person under legal protection
  • Person under guardianship or curatorship
  • Person in a period of exclusion (determined by a previous or current study)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Prevention
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Experimental: Charcot Marie Tooth type 1A

CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION):

  • Perceived fatigue
  • Mental functions
  • Sensory functions and pain
  • Neuromusculoskeletal and movement-related functions

  • Functions of the cardiovascular and respiratory systems

    o Exercise stress test

  • Fatigability (neuromuscular fatigue)

    • Lower limbs
    • Maximum voluntary strength
    • Study of the central and peripheral components of fatigue

ACTIVITIES AND PARTICIPATION

  • Mobility

    • Clinical standard tests for balance and walking
    • Quantified motion analysis
  • Activity level
  • Quality of life
Other: CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION) and ACTIVITIES AND PARTICIPATION

Tip: Ensure that this name matches the name used in the associated Arm Description.

CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION):

  • Perceived fatigue
  • Mental functions
  • Sensory functions and pain
  • Neuromusculoskeletal and movement-related functions

  • Functions of the cardiovascular and respiratory systems

    o Exercise stress test

  • Fatigability (neuromuscular fatigue)

    • Lower limbs
    • Maximum voluntary strength and power
    • Study of the central and peripheral components of fatigue

ACTIVITIES AND PARTICIPATION

  • Mobility

    • Clinical standard tests for balance and walking
    • Quantified motion analysis
  • Activity level Quality of life The same evaluation tests will be performed on patients and healthy volunteer controls
Active Comparator: Healthy subjects matched for age, height and lean body mass.
Identical to patient, except for Charcot-Marie-Tooth specific tests
Other: CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION) and ACTIVITIES AND PARTICIPATION

Tip: Ensure that this name matches the name used in the associated Arm Description.

CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION):

  • Perceived fatigue
  • Mental functions
  • Sensory functions and pain
  • Neuromusculoskeletal and movement-related functions

  • Functions of the cardiovascular and respiratory systems

    o Exercise stress test

  • Fatigability (neuromuscular fatigue)

    • Lower limbs
    • Maximum voluntary strength and power
    • Study of the central and peripheral components of fatigue

ACTIVITIES AND PARTICIPATION

  • Mobility

    • Clinical standard tests for balance and walking
    • Quantified motion analysis
  • Activity level Quality of life The same evaluation tests will be performed on patients and healthy volunteer controls

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Fatigability profile
Time Frame: 7 days
Difference in isometric force developed by the knee extensors (assessment of overall neuromuscular fatigue) before and after a tiring exercise (stress test), during a maximum voluntary contraction, expressed in N.m-1, assessed on an isokinetic dynamometer (CONTREX®), compared between patients with mCMT1A and healthy volunteers.
7 days

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
University Hospital, Strasbourg, France

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
February 20, 2026

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
February 20, 2026

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
February 1, 2028

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
March 19, 2025

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
July 4, 2025

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
July 15, 2025

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
February 19, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
February 16, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
July 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 9161 (Fred Hutch/University of Washington Cancer Consortium)
  • 2024-A01500-47 (Other Identifier: ANSM)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

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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