Charcot-Marie-Tooth Disease, Type IACMT1A-HOMENCT07591779
Physical Activity Level at Home in CMT1A Patients: Wearable Sensor Assessment
An observational study of Charcot-Marie-Tooth Disease, Type IA and Peripheral Neuropathy Hereditary, run by University Hospital, Limoges at 1 site in France.
Trial summary
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary peripheral neuropathy, affecting approximately 26,000 patients in France. It presents as chronic and progressive sensorimotor deficits predominantly affecting the distal lower limbs, with onset typically in childhood. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Charcot-Marie-Tooth Disease, Type IA, Peripheral Neuropathy Hereditary, Motor Activity
- How many people
- 60 participants
- Where
- 1 siteFrance
- Study dates
- 1 Jun 2026to 30 Jun 2027
- Phase
- Observational
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
- No healthy volunteers
- Adult, Older adult
Study population: Adult patients diagnosed with genetically confirmed CMT1A (PMP22 duplication) who are followed at the National Reference Centre for Rare Peripheral Neuropathies (Service de Neurologie, CHU de Limoges) and/or who have undergone gait analysis at the Quantified Movement Analysis Laboratory (Laboratoire d'AQM), Service de Médecine Physique et de Réadaptation, CHU de Limoges.
Who may be able to join
- Age ≥ 18 years
- Genetically confirmed diagnosis of CMT1A (PMP22 duplication on chromosomal analysis)
- Followed at the National Reference Centre for Rare Peripheral Neuropathies (Service de Neurologie, CHU de Limoges) and/or having undergone gait analysis at the Quantified Movement Analysis Laboratory (Laboratoire d'AQM), Service de Médecine Physique et de Réadaptation, CHU de Limoges
- Ability to walk independently (with or without walking aids)
- Informed consent obtained
- Affiliated to French social security system
Who cannot join
- Other associated neurological condition that could independently affect walking or motor activity
- Inability to wear the sensor device (skin allergy, sensory intolerance)
- Inability to comply with study procedures (cognitive impairment, no fixed domicile)
- Participation in another interventional study during the same period
- Pregnant or breastfeeding women
- Patients under legal protection (guardianship or curatorship)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Simon FRACHET, Dr contact
France1 site
Chu de Limoges
Limoges, 87042
sandra JUGE, Dr, 05 55 05 64 14, sandra.juge@chu-limoges.fr
About this study
Official title: Study of the Relationship Between Clinical and Functional Characteristics of Patients With CMT1A Disease and Their Level of Physical Activity at Home Measured Using Portable Electronic Sensors
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary peripheral neuropathy, affecting approximately 26,000 patients in France. It presents as chronic and progressive sensorimotor deficits predominantly affecting the distal lower limbs, with onset typically in childhood. There is currently no specific pharmacological treatment; management remains symptomatic.
This research will:
In the long run, validated wearable sensors could improve patient follow-up, personalize rehabilitation, and support the design of clinical trials for CMT1A - including trials of the novel "Nano-Cur" treatment currently under development.
Read the detailed description
Peripheral neuropathies are frequent conditions affecting peripheral nerves with highly varied etiologies. Among genetic causes, Charcot-Marie-Tooth (CMT) disease is the leading hereditary neuropathy, with approximately 26,000 patients in France. The most frequent form, CMT1A, is caused by a duplication of the PMP22 gene, leading to chronic progressive sensorimotor deficits predominantly affecting the distal lower limbs, with onset in childhood and significant impact on quality of life.
No specific pharmacological treatment exists for CMT1A. The CMT-FOM scale (Mandarakas et al., 2024, Neurology, 102: e207963) constitutes the reference for functional evaluation, but requires lengthy evaluation and a specialized technical platform, making it unsuitable for routine outpatient consultations. Furthermore, punctual evaluations may be biased by external factors (fatigue, mood, motivation) without faithfully reflecting the patient's daily neurological status.
Non-invasive wearable physical activity sensors offer a promising alternative, enabling repeated and ecologically valid measurements directly at home and over prolonged periods. This study aims to assess whether such ambulatory sensors can evaluate functional impairments in CMT1A patients equivalently to a comprehensive CMT-FOM evaluation.
The study will be conducted among CMT1A patients followed at the National Reference Centre for Rare Peripheral Neuropathies (Service de Neurologie, CHU de Limoges), in partnership with the Quantified Movement Analysis Laboratory (Laboratoire d'AQM), Service de Médecine Physique et de Réadaptation (CHU de Limoges). It represents a collaborative effort between research units NeurIT (UR20218) and HAVAE (UR20217).
This project also forms part of the broader development of the "Nano-Cur" therapeutic compound (NeurIT/LABCiS collaboration), having led to a national and international patent filing and the creation of the start-up Curlim (AFM-Téléthon/AVRUL support).
- Conditions
- Charcot-Marie-Tooth Disease, Type IA, Peripheral Neuropathy Hereditary, Motor Activity, Walking, Difficulty, Neuromuscular Diseases
- Keywords
- CMT1A, wearable sensor, actigraphy, physical activity, CMT-FOM, functional assessment, peripheral neuropathy
- Medical subject headings
- Charcot-Marie-Tooth Disease, Motor Activity, Mobility Limitation, Neuromuscular Diseases, Peripheral Nervous System Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| CMT1A-HOME | Adult patients diagnosed with CMT1A followed at the National Reference Centre for Rare Peripheral Neuropathies (CHU de Limoges) and/or the Laboratoire d'AQM (Service de MPR, CHU de Limoges). Participants will undergo: (1) comprehensive in-hospital functional evaluation using the CMT-FOM scale and standard clinical assessments, and (2) home-based physical activity monitoring with ActiGraph LEAP wearable sensors over 7 days. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Pearson/Spearman r: daily step count (ActiGraph) vs. CMT-FOM total score
Correlation coefficient (r : -1 to +1) between mean daily step count (steps/day) over 7 days and CMT-FOM total score obtained at Day 1 hospital visit.
Measured: Day 1 (CMT-FOM)
Pearson/Spearman r: daily step count (ActiGraph) vs. CMT-FOM total score
Correlation coefficient (r : -1 to +1) between mean daily step count (steps/day) over 7 days and CMT-FOM total score obtained at Day 1 hospital visit.
Measured: Day 7 (home monitoring)
Pearson/Spearman r: daily activity counts (ActiGraph) vs. CMT-FOM total score
Correlation coefficient (r : -1 to +1) between mean daily activity counts (raw accelerometry counts/day) over 7 days and CMT-FOM total score.
Measured: Day 1
Pearson/Spearman r: daily activity counts (ActiGraph) vs. CMT-FOM total score
Correlation coefficient (r : -1 to +1) between mean daily activity counts (raw accelerometry counts/day) over 7 days and CMT-FOM total score.
Measured: Day 7 (home monitoring)
Pearson/Spearman r: daily sedentary time (ActiGraph) vs. CMT-FOM total score
Correlation coefficient (r : -1 to +1) between mean daily sedentary time (minutes/day) over 7 days and CMT-FOM total score.
Measured: Day 1
Pearson/Spearman r: daily sedentary time (ActiGraph) vs. CMT-FOM total score
Correlation coefficient (r : -1 to +1) between mean daily sedentary time (minutes/day) over 7 days and CMT-FOM total score.
Measured: Day 7 (home monitoring)
Pearson/Spearman r: composite sensor score vs. CMT-FOM sub-scores
Correlation coefficient (r : -1 to +1) between ActiGraph-derived metrics and CMT-FOM sub-domain scores (upper limb, lower limb, balance, endurance). Reported separately per sub-score.
Measured: Day 1
Pearson/Spearman r: composite sensor score vs. CMT-FOM sub-scores
Correlation coefficients (r : -1 to +1) between ActiGraph-derived metrics and CMT-FOM sub-domain scores (upper limb, lower limb, balance, endurance). Reported separately per sub-score.
Measured: Day 7 (home monitoring)
Secondary outcomes (10)
Intraclass Correlation Coefficient (ICC) of daily step count across 7 days
Test-retest reliability (ICC (0 to 1), two-way mixed, absolute agreement) of daily step count measured by ActiGraph LEAP across 7 home monitoring days.
Measured: Day 7 (home monitoring)
Coefficient of Variation (CV, %) of daily activity counts across 7 days
Day-to-day variability expressed as CV (%) for raw accelerometry activity counts across 7 days.
Measured: Day 7 (home monitoring)
Minimal Detectable Change (MDC) of daily step count
MDC95 of daily step count (steps/day), calculated from SEM and ICC, representing the smallest change exceeding measurement error.
Measured: Day 7 (home monitoring)
Pearson r: daily step count vs. CMT Neuropathy Score (CMT-NS)
Correlation (r : -1 to +1) between mean daily steps/day and CMT-NS total score at Day 1.
Measured: Day 1
Pearson r: daily step count vs. 6-Minute Walk Test distance (meters)
Correlation (r : -1 to +1) between mean daily steps/day and 6MWT distance (meters) measured at Day 1.
Measured: Day 1
Pearson r: daily step count vs. 10-Meter Walk Test speed (m/s)
Correlation (r : -1 to +1) between mean daily steps/day and 10MWT comfortable-pace speed (m/s) at Day 1.
Measured: Day 1
Mean daily step count stratified by CMT-FOM severity quartile
Mean (±SD) daily step count compared across CMT-FOM severity quartiles (Q1-Q4) to characterise activity profiles by disease severity.
Measured: Day 1
Mean daily step count stratified by CMT-FOM severity quartile
Mean (±SD) daily step count compared across CMT-FOM severity quartiles (Q1-Q4) to characterise activity profiles by disease severity.
Measured: Day 7 (home monitoring)
Mean daily sedentary time stratified by CMT-FOM severity quartile
Mean (±SD) daily sedentary time (min/day) compared across CMT-FOM severity quartiles.
Measured: Day 1
Mean daily sedentary time stratified by CMT-FOM severity quartile
Mean (±SD) daily sedentary time (min/day) compared across CMT-FOM severity quartiles.
Measured: Day 7 (home monitoring)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 May 2026
- Study start1 Jun 2026 (estimated)
- Primary completion15 Apr 2027 (estimated)
- Study completion30 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Charcot-Marie-Tooth Disease, Type IAStudies 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
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Limoges
- Sponsor type
- University, hospital or other
- Collaborators
- Limoges University
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07591779
- Sponsor's protocol ID
- 87RI26_0017_CMT1A-HOME
- Acronym
- CMT1A-HOME
- Status last verified
- Mar 2026
- First submitted
- 26 Mar 2026
- Last updated
- 22 May 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Mandarakas MR, Eichinger KJ, Bray P, Cornett KMD, Shy ME, Reilly MM, Ramdharry GM, Scherer SS, Pareyson D, Estilow T, McKay MJ; for ACT-CMT Study Group; Herrmann DN, Burns J. Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure. Neurology. 2024 Feb 13;102(3):e207963. doi: 10.1212/WNL.0000000000207963. Epub 2024 Jan 18.
PubMed 38237108Shy ME, et al. CMT Neuropathy Score: a reliable scale of disability for Charcot-Marie-Tooth disease. Neurology. 2005;64(10):1738-1744.
Vinci P, Perelli SL. Footdrop, foot rotation, and plantarflexor failure in Charcot-Marie-Tooth disease. Arch Phys Med Rehabil. 2002 Apr;83(4):513-6. doi: 10.1053/apmr.2002.31174.
PubMed 11932853Tofthagen C, et al. Wearable technology for monitoring physical activity in patients with Charcot-Marie-Tooth disease. J Neurol Sci. 2019;396:102-107.
Tudor-Locke C, Bassett DR Jr. How many steps/day are enough? Preliminary pedometer indices for public health. Sports Med. 2004;34(1):1-8. doi: 10.2165/00007256-200434010-00001.
PubMed 14715035Koo TK, Li MY. A Guideline of Selecting and Reporting Intraclass Correlation Coefficients for Reliability Research. J Chiropr Med. 2016 Jun;15(2):155-63. doi: 10.1016/j.jcm.2016.02.012. Epub 2016 Mar 31.
PubMed 27330520ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories. ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med. 2002 Jul 1;166(1):111-7. doi: 10.1164/ajrccm.166.1.at1102. No abstract available.
PubMed 12091180