Charcot-Marie-Tooth Type 1AFatMobCMT1ANCT07066683
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
A study testing CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION) and ACTIVITIES AND PARTICIPATION in people with Charcot-Marie-Tooth Type 1A, run by University Hospital, Strasbourg, France at 1 site in France.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 to 74 yearsHealthy volunteers can take part
- Conditions the study is for
- Charcot-Marie-Tooth Type 1A
- What is being tested?
- CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION) and ACTIVITIES AND PARTICIPATION
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 44 participants
- Where
- 1 siteFrance
- Study dates
- 20 Feb 2026to Feb 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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 to 74 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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
Show all 9Show fewer
- 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.
Who cannot join
- 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
Show all 27Show fewer
- 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)
- 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)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site
Pôle de médecine physique et de réadaptation, Hôpital de Hautepierre, Strasbourg Centre de référence des maladies neuromusculaires, Institut Universitaire de Réadaptation Clémenceau, Strasbourg
Strasbourg, 67000
Charles PRADEAU, charles.pradeau@chru-strasbourg.fr
About this study
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.
Read more
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.
- Conditions
- Charcot-Marie-Tooth Type 1A
- Being tested
- CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION) and ACTIVITIES AND PARTICIPATION
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION) and ACTIVITIES AND PARTICIPATIONOther
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
- 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
| Study group | Role | What they receive |
|---|---|---|
| Charcot Marie Tooth type 1A | Experimental | 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 Receives: Other: CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION) and ACTIVITIES AND PARTICIPATION |
| Healthy subjects matched for age, height and lean body mass. | Active comparator | Identical to patient, except for Charcot-Marie-Tooth specific tests Receives: Other: CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION) and ACTIVITIES AND PARTICIPATION |
What is being measured
The primary outcome is the main question the study is designed to answer.
Fatigability profile
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.
Measured: 7 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Jul 2025
- Study start20 Feb 2026 (estimated)
- Primary completion20 Feb 2026 (estimated)
- Study completionFeb 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Charcot-Marie-Tooth Type 1AStudies of the same condition, open and under way.
- 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
- Prevention
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 44 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07066683
- Sponsor's protocol ID
- 9161
- Other IDs
- 2024-A01500-47
- Acronym
- FatMobCMT1A
- Status last verified
- Jul 2025
- First submitted
- 19 Mar 2025
- Last updated
- 19 Feb 2026
- 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 19 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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
- ClinicalTrials.gov ID
- NCT07066683
- Acronym / sponsor ID
- FatMobCMT1A / 9161
- Conditions
- Charcot-Marie-Tooth Type 1A
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 44 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 20 Feb 2026 (estimated)
- Primary completion
- 20 Feb 2026 (estimated)
- Study completion
- Feb 2028 (estimated)
- First posted
- 15 Jul 2025 (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 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 design
- Primary purpose
- Prevention
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Charcot Marie Tooth type 1A | Experimental | Other: CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION) and ACTIVITIES AND PARTICIPATIONCLINICAL 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 |
| Healthy subjects matched for age, height and lean body mass. | Active comparator | Other: CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION) and ACTIVITIES AND PARTICIPATIONIdentical to patient, except for Charcot-Marie-Tooth specific tests |
Who may qualify
- Ages
- 18 to 74 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (9 listed)
- 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
Key exclusion criteria (27 listed)
- Patients with all other forms of neuropathy (HNPP, other types of CMT, secondary neuropathies)
- Patients with any of the following
- 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
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 |
|---|---|---|
| CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION) and ACTIVITIES AND PARTICIPATIONTip: 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 | Other | Charcot Marie Tooth type 1A, Healthy subjects matched for age, height and lean body mass. |
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Feb 2026.
- Individual participant dataSharing planned: No
Related trials for Charcot-Marie-Tooth Type 1A
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
Recruiting
Clinical Trial Evaluating the Impact of an Intensive Rehabilitation Program Combined With Tendon Vibratory Stimulation on Functional Balance in Individuals With Charcot-Marie-Tooth Disease Type 1A
Charcot-Marie-Tooth Disease Type 1A
RecruitingPhase 1
A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A.
Charcot-Marie-Tooth Disease, Type 1A
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
Recruiting
Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION) and ACTIVITIES AND PARTICIPATION in people with Charcot-Marie-Tooth Type 1A, run by University Hospital, Strasbourg, France 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 9 inclusion and 27 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: opening soon, as of the sponsor's last update on 19 Feb 2026. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Charles PRADEAU (03.88.21.16.28, charles.pradeau@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Fatigability profile (time frame: 7 days). 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 19 Feb 2026.