Physical Activity Level at Home in CMT1A Patients: Wearable Sensor Assessment

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.

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).

Inclusion Criteria:

1. Age ≥ 18 years
2. Genetically confirmed diagnosis of CMT1A (PMP22 duplication on chromosomal analysis)
3. 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
4. Ability to walk independently (with or without walking aids)
5. Informed consent obtained
6. Affiliated to French social security system

Exclusion Criteria:

1. Other associated neurological condition that could independently affect walking or motor activity
2. Inability to wear the sensor device (skin allergy, sensory intolerance)
3. Inability to comply with study procedures (cognitive impairment, no fixed domicile)
4. Participation in another interventional study during the same period
5. Pregnant or breastfeeding women
6. Patients under legal protection (guardianship or curatorship)