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

Официальное название

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

Обзор

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.

Подробное описание

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).

Первичные конечные точки

• Pearson/Spearman r: daily step count (ActiGraph) vs. CMT-FOM total score [Срок оценки: Day 1 (CMT-FOM)]
• Pearson/Spearman r: daily step count (ActiGraph) vs. CMT-FOM total score [Срок оценки: Day 7 (home monitoring)]
• Pearson/Spearman r: daily activity counts (ActiGraph) vs. CMT-FOM total score [Срок оценки: Day 1]
• Pearson/Spearman r: daily activity counts (ActiGraph) vs. CMT-FOM total score [Срок оценки: Day 7 (home monitoring)]
• Pearson/Spearman r: daily sedentary time (ActiGraph) vs. CMT-FOM total score [Срок оценки: Day 1]
• Pearson/Spearman r: daily sedentary time (ActiGraph) vs. CMT-FOM total score [Срок оценки: Day 7 (home monitoring)]
• Pearson/Spearman r: composite sensor score vs. CMT-FOM sub-scores [Срок оценки: Day 1]
• Pearson/Spearman r: composite sensor score vs. CMT-FOM sub-scores [Срок оценки: Day 7 (home monitoring)]

Вторичные конечные точки (10)

• Intraclass Correlation Coefficient (ICC) of daily step count across 7 days [Срок оценки: Day 7 (home monitoring)]
• Coefficient of Variation (CV, %) of daily activity counts across 7 days [Срок оценки: Day 7 (home monitoring)]
• Minimal Detectable Change (MDC) of daily step count [Срок оценки: Day 7 (home monitoring)]
• Pearson r: daily step count vs. CMT Neuropathy Score (CMT-NS) [Срок оценки: Day 1]
• Pearson r: daily step count vs. 6-Minute Walk Test distance (meters) [Срок оценки: Day 1]
• Pearson r: daily step count vs. 10-Meter Walk Test speed (m/s) [Срок оценки: Day 1]
• Mean daily step count stratified by CMT-FOM severity quartile [Срок оценки: Day 1]
• Mean daily step count stratified by CMT-FOM severity quartile [Срок оценки: Day 7 (home monitoring)]
• Mean daily sedentary time stratified by CMT-FOM severity quartile [Срок оценки: Day 1]
• Mean daily sedentary time stratified by CMT-FOM severity quartile [Срок оценки: Day 7 (home monitoring)]

Критерии участия

Критерии включения

• 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

Критерии исключения

• 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)

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Франция · 1 центр

• Chu de Limoges — Limoges

Публикации

• 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. PMID 38237108
• 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. PMID 11932853
• Tofthagen 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. PMID 14715035
• 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. PMID 27330520
• 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. PMID 12091180

Идентификаторы

NCT: NCT07591779 · 87RI26_0017_CMT1A-HOME

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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