Physical Activity Level at Home in CMT1A Patients: Wearable Sensor Assessment (CMT1A-HOME)
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.
Descripción general del estudio
Estado
Descripción detallada
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).
Tipo de estudio
Inscripción (Estimado)
Contactos y Ubicaciones
Estudio Contacto
- Nombre: Maxence COMPAGNAT, Pr
- Número de teléfono: 05 55 05 65 18
- Correo electrónico: maxence.compagnat@chu-limoges.fr
Copia de seguridad de contactos de estudio
- Nombre: Simon FRACHET, Dr
- Correo electrónico: simon.frachet@chu-limoges.fr
Ubicaciones de estudio
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Limoges, Francia, 87042
- CHU de Limoges
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Contacto:
- sandra JUGE, Dr
- Número de teléfono: 05 55 05 64 14
- Correo electrónico: sandra.juge@chu-limoges.fr
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Criterios de participación
Criterio de elegibilidad
Edades elegibles para estudiar
- Adulto
- Adulto Mayor
Acepta Voluntarios Saludables
Método de muestreo
Población de estudio
Descripción
Inclusion Criteria:
- 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
Exclusion Criteria:
- 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)
Plan de estudios
¿Cómo está diseñado el estudio?
Detalles de diseño
Cohortes e Intervenciones
Grupo / Cohorte |
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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.
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¿Qué mide el estudio?
Medidas de resultado primarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
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Pearson/Spearman r: daily step count (ActiGraph) vs. CMT-FOM total score
Periodo de tiempo: Day 1 (CMT-FOM)
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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.
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Day 1 (CMT-FOM)
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Pearson/Spearman r: daily step count (ActiGraph) vs. CMT-FOM total score
Periodo de tiempo: Day 7 (home monitoring)
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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.
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Day 7 (home monitoring)
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Pearson/Spearman r: daily activity counts (ActiGraph) vs. CMT-FOM total score
Periodo de tiempo: Day 1
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Correlation coefficient (r : -1 to +1) between mean daily activity counts (raw accelerometry counts/day) over 7 days and CMT-FOM total score.
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Day 1
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Pearson/Spearman r: daily activity counts (ActiGraph) vs. CMT-FOM total score
Periodo de tiempo: Day 7 (home monitoring)
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Correlation coefficient (r : -1 to +1) between mean daily activity counts (raw accelerometry counts/day) over 7 days and CMT-FOM total score.
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Day 7 (home monitoring)
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Pearson/Spearman r: daily sedentary time (ActiGraph) vs. CMT-FOM total score
Periodo de tiempo: Day 1
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Correlation coefficient (r : -1 to +1) between mean daily sedentary time (minutes/day) over 7 days and CMT-FOM total score.
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Day 1
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Pearson/Spearman r: daily sedentary time (ActiGraph) vs. CMT-FOM total score
Periodo de tiempo: Day 7 (home monitoring)
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Correlation coefficient (r : -1 to +1) between mean daily sedentary time (minutes/day) over 7 days and CMT-FOM total score.
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Day 7 (home monitoring)
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Pearson/Spearman r: composite sensor score vs. CMT-FOM sub-scores
Periodo de tiempo: Day 1
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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.
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Day 1
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Pearson/Spearman r: composite sensor score vs. CMT-FOM sub-scores
Periodo de tiempo: Day 7 (home monitoring)
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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.
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Day 7 (home monitoring)
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Medidas de resultado secundarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
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Intraclass Correlation Coefficient (ICC) of daily step count across 7 days
Periodo de tiempo: Day 7 (home monitoring)
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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.
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Day 7 (home monitoring)
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Coefficient of Variation (CV, %) of daily activity counts across 7 days
Periodo de tiempo: Day 7 (home monitoring)
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Day-to-day variability expressed as CV (%) for raw accelerometry activity counts across 7 days.
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Day 7 (home monitoring)
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Minimal Detectable Change (MDC) of daily step count
Periodo de tiempo: Day 7 (home monitoring)
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MDC95 of daily step count (steps/day), calculated from SEM and ICC, representing the smallest change exceeding measurement error.
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Day 7 (home monitoring)
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Pearson r: daily step count vs. CMT Neuropathy Score (CMT-NS)
Periodo de tiempo: Day 1
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Correlation (r : -1 to +1) between mean daily steps/day and CMT-NS total score at Day 1.
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Day 1
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Pearson r: daily step count vs. 6-Minute Walk Test distance (meters)
Periodo de tiempo: Day 1
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Correlation (r : -1 to +1) between mean daily steps/day and 6MWT distance (meters) measured at Day 1.
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Day 1
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Pearson r: daily step count vs. 10-Meter Walk Test speed (m/s)
Periodo de tiempo: Day 1
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Correlation (r : -1 to +1) between mean daily steps/day and 10MWT comfortable-pace speed (m/s) at Day 1.
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Day 1
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Mean daily step count stratified by CMT-FOM severity quartile
Periodo de tiempo: Day 1
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Mean (±SD) daily step count compared across CMT-FOM severity quartiles (Q1-Q4) to characterise activity profiles by disease severity.
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Day 1
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Mean daily step count stratified by CMT-FOM severity quartile
Periodo de tiempo: Day 7 (home monitoring)
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Mean (±SD) daily step count compared across CMT-FOM severity quartiles (Q1-Q4) to characterise activity profiles by disease severity.
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Day 7 (home monitoring)
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Mean daily sedentary time stratified by CMT-FOM severity quartile
Periodo de tiempo: Day 1
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Mean (±SD) daily sedentary time (min/day) compared across CMT-FOM severity quartiles.
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Day 1
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Mean daily sedentary time stratified by CMT-FOM severity quartile
Periodo de tiempo: Day 7 (home monitoring)
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Mean (±SD) daily sedentary time (min/day) compared across CMT-FOM severity quartiles.
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Day 7 (home monitoring)
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Colaboradores e Investigadores
Patrocinador
Colaboradores
Publicaciones y enlaces útiles
Publicaciones Generales
- 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.
- Koo 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.
- ATS 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.
- 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.
- Shy 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.
- Tofthagen C, et al. Wearable technology for monitoring physical activity in patients with Charcot-Marie-Tooth disease. J Neurol Sci. 2019;396:102-107.
Fechas de registro del estudio
Fechas importantes del estudio
Inicio del estudio (Estimado)
Finalización primaria (Estimado)
Finalización del estudio (Estimado)
Fechas de registro del estudio
Enviado por primera vez
Primero enviado que cumplió con los criterios de control de calidad
Publicado por primera vez (Actual)
Actualizaciones de registros de estudio
Última actualización publicada (Actual)
Última actualización enviada que cumplió con los criterios de control de calidad
Última verificación
Más información
Términos relacionados con este estudio
Palabras clave
Términos MeSH relevantes adicionales
- Enfermedades del Sistema Nervioso
- Enfermedades Genéticas Congénitas
- Enfermedades neurodegenerativas
- Anomalías congénitas
- Trastornos Heredodegenerativos, Sistema Nervioso
- Malformaciones del Sistema Nervioso
- Polineuropatías
- Neuropatía sensorial y motora hereditaria
- Enfermedades y anomalías congénitas, hereditarias y neonatales
- Condiciones Patológicas, Signos y Síntomas
- Comportamiento
- Signos y síntomas
- Enfermedades del Sistema Nervioso Periférico
- Limitación de movilidad
- Enfermedad de Charcot-Marie-Tooth
- Enfermedades Neuromusculares
- Actividad del motor
Otros números de identificación del estudio
- 87RI26_0017_CMT1A-HOME
Información sobre medicamentos y dispositivos, documentos del estudio
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