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Physical Activity Level at Home in CMT1A Patients: Wearable Sensor Assessment (CMT1A-HOME)

20. mai 2026 oppdatert av: University Hospital, Limoges

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.

Studieoversikt

Status

Har ikke rekruttert ennå

Forhold

Detaljert beskrivelse

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).

Studietype

Observasjonsmessig

Registrering (Antatt)

60

Kontakter og plasseringer

Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.

Studiekontakt

Studer Kontakt Backup

Studiesteder

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

  • Voksen
  • Eldre voksen

Tar imot friske frivillige

Nei

Prøvetakingsmetode

Ikke-sannsynlighetsprøve

Studiepopulasjon

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.

Beskrivelse

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)

Studieplan

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

Kohorter og intervensjoner

Gruppe / Kohort
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.

Hva måler studien?

Primære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Pearson/Spearman r: daily step count (ActiGraph) vs. CMT-FOM total score
Tidsramme: Day 1 (CMT-FOM)
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.
Day 1 (CMT-FOM)
Pearson/Spearman r: daily step count (ActiGraph) vs. CMT-FOM total score
Tidsramme: Day 7 (home monitoring)
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.
Day 7 (home monitoring)
Pearson/Spearman r: daily activity counts (ActiGraph) vs. CMT-FOM total score
Tidsramme: Day 1
Correlation coefficient (r : -1 to +1) between mean daily activity counts (raw accelerometry counts/day) over 7 days and CMT-FOM total score.
Day 1
Pearson/Spearman r: daily activity counts (ActiGraph) vs. CMT-FOM total score
Tidsramme: Day 7 (home monitoring)
Correlation coefficient (r : -1 to +1) between mean daily activity counts (raw accelerometry counts/day) over 7 days and CMT-FOM total score.
Day 7 (home monitoring)
Pearson/Spearman r: daily sedentary time (ActiGraph) vs. CMT-FOM total score
Tidsramme: Day 1
Correlation coefficient (r : -1 to +1) between mean daily sedentary time (minutes/day) over 7 days and CMT-FOM total score.
Day 1
Pearson/Spearman r: daily sedentary time (ActiGraph) vs. CMT-FOM total score
Tidsramme: Day 7 (home monitoring)
Correlation coefficient (r : -1 to +1) between mean daily sedentary time (minutes/day) over 7 days and CMT-FOM total score.
Day 7 (home monitoring)
Pearson/Spearman r: composite sensor score vs. CMT-FOM sub-scores
Tidsramme: Day 1
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.
Day 1
Pearson/Spearman r: composite sensor score vs. CMT-FOM sub-scores
Tidsramme: Day 7 (home monitoring)
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.
Day 7 (home monitoring)

Sekundære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Intraclass Correlation Coefficient (ICC) of daily step count across 7 days
Tidsramme: Day 7 (home monitoring)
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.
Day 7 (home monitoring)
Coefficient of Variation (CV, %) of daily activity counts across 7 days
Tidsramme: Day 7 (home monitoring)
Day-to-day variability expressed as CV (%) for raw accelerometry activity counts across 7 days.
Day 7 (home monitoring)
Minimal Detectable Change (MDC) of daily step count
Tidsramme: Day 7 (home monitoring)
MDC95 of daily step count (steps/day), calculated from SEM and ICC, representing the smallest change exceeding measurement error.
Day 7 (home monitoring)
Pearson r: daily step count vs. CMT Neuropathy Score (CMT-NS)
Tidsramme: Day 1
Correlation (r : -1 to +1) between mean daily steps/day and CMT-NS total score at Day 1.
Day 1
Pearson r: daily step count vs. 6-Minute Walk Test distance (meters)
Tidsramme: Day 1
Correlation (r : -1 to +1) between mean daily steps/day and 6MWT distance (meters) measured at Day 1.
Day 1
Pearson r: daily step count vs. 10-Meter Walk Test speed (m/s)
Tidsramme: Day 1
Correlation (r : -1 to +1) between mean daily steps/day and 10MWT comfortable-pace speed (m/s) at Day 1.
Day 1
Mean daily step count stratified by CMT-FOM severity quartile
Tidsramme: Day 1
Mean (±SD) daily step count compared across CMT-FOM severity quartiles (Q1-Q4) to characterise activity profiles by disease severity.
Day 1
Mean daily step count stratified by CMT-FOM severity quartile
Tidsramme: Day 7 (home monitoring)
Mean (±SD) daily step count compared across CMT-FOM severity quartiles (Q1-Q4) to characterise activity profiles by disease severity.
Day 7 (home monitoring)
Mean daily sedentary time stratified by CMT-FOM severity quartile
Tidsramme: Day 1
Mean (±SD) daily sedentary time (min/day) compared across CMT-FOM severity quartiles.
Day 1
Mean daily sedentary time stratified by CMT-FOM severity quartile
Tidsramme: Day 7 (home monitoring)
Mean (±SD) daily sedentary time (min/day) compared across CMT-FOM severity quartiles.
Day 7 (home monitoring)

Samarbeidspartnere og etterforskere

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Sponsor

University Hospital, Limoges

Samarbeidspartnere

Limoges University

Publikasjoner og nyttige lenker

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Generelle publikasjoner

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Antatt)

1. juni 2026

Primær fullføring (Antatt)

15. april 2027

Studiet fullført (Antatt)

30. juni 2027

Datoer for studieregistrering

Først innsendt

26. mars 2026

Først innsendt som oppfylte QC-kriteriene

15. mai 2026

Først lagt ut (Faktiske)

18. mai 2026

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)

22. mai 2026

Siste oppdatering sendt inn som oppfylte QC-kriteriene

20. mai 2026

Sist bekreftet

1. mars 2026

Mer informasjon

Begreper knyttet til denne studien

Nøkkelord

Ytterligere relevante MeSH-vilkår

Andre studie-ID-numre

  • 87RI26_0017_CMT1A-HOME

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Nei

Studerer et amerikansk FDA-regulert enhetsprodukt

Nei

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