- ICH GCP
- Yhdysvaltain kliinisten tutkimusten rekisteri
- Kliininen tutkimus NCT07726043
Clinical Trial Evaluating the Impact of an Intensive Rehabilitation Program Combined With Tendon Vibratory Stimulation on Functional Balance in Individuals With Charcot-Marie-Tooth Disease Type 1A (EQUIVIB-CMT)
Charcot-Marie-Tooth (CMT) disease is caused by a genetic abnormality involving the PMP22 gene, resulting in demyelination of the peripheral nerves. Demyelination leads to sensorimotor impairment and causes progressive muscle weakness and tendon contractures, initially affecting the lower limbs. Consequently, individuals with CMT experience balance impairments and gait disturbances, including ankle instability, foot drop, and postural instability, which lead to frequent falls and reduced quality of life. Currently, there is no disease-modifying treatment for CMT.
Several rehabilitation approaches have been proposed, including endurance training and muscle strengthening programs, to improve independence in activities of daily living. However, rehabilitation practices for individuals with CMT remain poorly standardized, and there is still a lack of clearly defined rehabilitation protocols, despite broad agreement among healthcare professionals regarding their potential benefits.
More recently, noninvasive focal tendon vibration has been investigated in several neurological disorders to improve sensory function, balance, and motor performance. Previous studies suggest that mechanical vibratory stimulation applied to the quadriceps tendon may induce sustained improvements in postural control and lower-limb muscle strength.
The present study aims to evaluate a rehabilitation program combined with tendon vibratory stimulation. The objective is to compare the effectiveness of a short-term (2-week), intensive multidisciplinary rehabilitation program focused on balance with different types of focal tendon vibration, in order to better address balance impairments and their associated complications in individuals with Charcot-Marie-Tooth disease.
Tutkimuksen yleiskatsaus
Tila
Interventio / Hoito
Yksityiskohtainen kuvaus
Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy, with a prevalence ranging from 3.1 to 82.3 per 100,000 individuals. It is caused by genetic abnormalities affecting peripheral nerves. The most common form, accounting for approximately 60% of CMT cases, is Charcot-Marie-Tooth disease type 1A (CMT1A). CMT1A is characterized by a demyelinating neuropathy, autosomal dominant inheritance, and a mutation involving the PMP22 gene.
The first clinical signs of the disease typically appear before the age of 20 years and consist of a length-dependent sensorimotor impairment with distal predominance and diffuse areflexia. The disease primarily affects the lower limbs; upper limb involvement is variable and may develop after several years of disease progression. These impairments result in progressive distal muscle weakness associated with muscle atrophy, tendon contractures leading to pes cavus and claw toe deformities, and mild-to-moderate distal sensory impairment. These manifestations lead to major functional complaints among individuals with CMT, including balance disorders, gait disturbances related to ankle instability, foot clearance difficulties during the swing phase, and postural instability, resulting in frequent falls and impaired quality of life.
Currently, there is no disease-modifying treatment for CMT.
Assistive devices and lower-limb orthotic management may be prescribed. Surgical treatment may be considered in cases of severe and disabling musculoskeletal deformities.
Several rehabilitation approaches have been proposed, including endurance training and strengthening programs to improve independence in activities of daily living, as well as aerobic training programs aimed at improving functional capacity, aerobic capacity, muscle strength, and fatigue in individuals with CMT. The French National Diagnostic and Care Protocol (PNDS) for hereditary motor and sensory neuropathies associated with CMT highlights the lack of standardized rehabilitation practices and clearly defined protocols, despite a consensus among healthcare professionals regarding their potential benefits. Indeed, the literature includes only one randomized controlled trial, published in 2006, with a small sample size (n = 16), demonstrating improvements in balance, assessed using the Berg Balance Scale (BBS), following a two-week dynamic training program combining passive stretching, muscle strengthening, and standing balance exercises.
In addition, non-invasive focal tendon vibration has been proposed in several neurological disorders to improve sensory function, balance, and motor performance, particularly in individuals with diabetic peripheral neuropathy. Some studies suggest that mechanical vibratory stimulation applied to the quadriceps tendon may induce sustained improvements in postural control and lower-limb strength in women over 60 years of age.
In individuals with CMT, a pilot study involving 14 participants with CMT1A demonstrated improved balance performance on the Berg Balance Scale following three consecutive days of musculoskeletal vibration therapy applied to the quadriceps and triceps surae muscles.
In this context, we selected the Vibramoov device, a neurorehabilitation device that has already demonstrated clinical benefits in comparable studies involving other neurological disorders. Vibramoov delivers vibrations applied at the musculotendinous junction, thereby mechanically stimulating muscle spindles and reproducing the sensory signals associated with natural movement. This approach, already validated in other clinical settings, represents a promising strategy to improve balance and gait in individuals with CMT by integrating it into an intensive multidisciplinary rehabilitation program.
Therefore, it appears relevant to investigate a specific intensive multidisciplinary rehabilitation program combined with mechanical vibratory stimulation to improve functional balance and gait abilities in individuals with CMT.
Opintotyyppi
Ilmoittautuminen (Arvioitu)
Vaihe
- Ei sovellettavissa
Yhteystiedot ja paikat
Opiskeluyhteys
- Nimi: Laurent Bensoussan, MD
- Puhelinnumero: +33 4 91 74 42 00
- Sähköposti: laurent.bensoussan@ugecam.assurance-maladie.fr
Tutki yhteystietojen varmuuskopiointi
- Nimi: Clotilde Pheulpin, MD
Opiskelupaikat
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Marseille, Ranska, 13009
- Rekrytointi
- IUR Valmante Sud
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Ottaa yhteyttä:
- Laurent Bensoussan, MD
- Puhelinnumero: +33 4 91 74 42 00
- Sähköposti: laurent.bensoussan@ugecam.assurance-maladie.fr
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Osallistumiskriteerit
Kelpoisuusvaatimukset
Opintokelpoiset iät
- Aikuinen
- Vanhempi Aikuinen
Hyväksyy terveitä vapaaehtoisia
Kuvaus
Inclusion Criteria:
- Individuals with genetically confirmed Charcot-Marie-Tooth disease type 1A (CMT1A), characterized by PMP22 gene duplication on chromosome 17 (17p11.2).
- Age between 18 and 65 years.
- Overall Neuropathy Limitations Scale (ONLS) score between 2 and 3/7 for the lower limbs.
- Affiliation with a social security/health insurance system.
- Written informed consent voluntarily provided after receiving information regarding the study objectives, procedures, and potential risks.
Exclusion Criteria:
- Comorbidities causing peripheral neuropathy (e.g., diabetes, renal failure, medication-induced neuropathy).
- Balance or gait disorders due to another cause.
- Individuals without a permanent residence.
- Individuals deprived of liberty by judicial or administrative decision or under legal guardianship.
- Individuals unable to understand the study objectives and procedures or unable to provide informed consent.
- Individuals unable to complete all study procedures.
- Previous use of the Vibramoov device.
- Pregnant women or women planning to become pregnant during the study period.
- Concurrent participation in another research study.
Opintosuunnitelma
Miten tutkimus on suunniteltu?
Suunnittelun yksityiskohdat
- Ensisijainen käyttötarkoitus: Tukevaa hoitoa
- Jako: Satunnaistettu
- Inventiomalli: Rinnakkaistehtävä
- Naamiointi: Nelinkertaistaa
Aseet ja interventiot
Osallistujaryhmä / Arm |
Interventio / Hoito |
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Kokeellinen: With mechanical vibratory stimulation
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2-week intensive multidisciplinary rehabilitation program including physical therapy, occupational therapy, and adapted physical activity sessions, followed by balance assessments and evaluation of neuropathy status.
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Huijausvertailija: Without mechanical vibratory stimulation
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2-week intensive multidisciplinary rehabilitation program including physical therapy, occupational therapy, and adapted physical activity sessions, followed by balance assessments and evaluation of neuropathy status.
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Mitä tutkimuksessa mitataan?
Ensisijaiset tulostoimenpiteet
Tulosmittaus |
Toimenpiteen kuvaus |
Aikaikkuna |
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Berg Balance Scale
Aikaikkuna: Baseline, Week 3 , Week 7, Week 15
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The primary outcome measure of this study will be the assessment of balance using the Berg Balance Scale (BBS).
The BBS is a 14-item scale in which each item is scored from 0 to 4 points and evaluates static and dynamic balance as well as fall risk.
This scale has been validated in individuals with neurological disorders and has been used to assess balance impairments in individuals with Charcot-Marie-Tooth disease.
The BBS has demonstrated good reliability and responsiveness to change.
A change of 4 to 7 points, depending on the baseline score, has been identified as a clinically meaningful indicator of improvement in balance.
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Baseline, Week 3 , Week 7, Week 15
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Toissijaiset tulostoimenpiteet
Tulosmittaus |
Toimenpiteen kuvaus |
Aikaikkuna |
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CMT Neuropathy Score
Aikaikkuna: Baseline, Week 3 , Week 7, Week 15
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This validated score provides a reliable measure of overall neuropathy severity.
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Baseline, Week 3 , Week 7, Week 15
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Posturography
Aikaikkuna: Baseline, Week 3, Week 7, Week 15
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Assessment of balance and proprioception by recording center of pressure sway on a force platform.
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Baseline, Week 3, Week 7, Week 15
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Timed Up and Go (TUG) test
Aikaikkuna: Baseline, Week 3, Week 7, Week 15
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This test is used to identify individuals at risk of falls and to assess functional mobility.
Participants are timed while standing up from a chair without armrests, walking 3 meters, turning around, walking back to the chair, and sitting down.
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Baseline, Week 3, Week 7, Week 15
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Knee joint position sense assessment using electronic goniometers
Aikaikkuna: Baseline, Week 3, Week 7, Week 15
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Participants will be seated with their knees flexed at 90°.
The examiner will passively move the knee to a target angle.
After returning to the starting position, participants, with their eyes closed, will be asked to actively reproduce the target knee position.
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Baseline, Week 3, Week 7, Week 15
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Gait assessment
Aikaikkuna: Baseline, Week 3, Week 7, Week 15
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6-Minute Walk Test (6MWT): Assessment of walking endurance.
Walking distance (meters) and number of rest stops will be recorded.
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Baseline, Week 3, Week 7, Week 15
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Walking speed
Aikaikkuna: Baseline, Week3, Week 7, Week 15
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10-Meter Walk Test (10MWT): Assessment of self-selected walking speed by measuring the time (seconds) required to walk 10 meters.
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Baseline, Week3, Week 7, Week 15
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Borg Rate of Perceived Extorsion (RPE) scale
Aikaikkuna: Baseline, Week 3, Week 7, Week 15
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Measure of perceived exertion (Borg Rate of Perceived Extorsion (RPE) scale from 1 - "at rest" to 10 - "maximal") during during walk speed assessment.
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Baseline, Week 3, Week 7, Week 15
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Muscle strength assessment
Aikaikkuna: Baseline, Week 3, Week 7, Week 15
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Muscle strength will be assessed using the Medical Research Council (MRC) scale (0 - "no movement" to 5 - "normal force") for the tibialis anterior, extensor hallucis longus, extensor digitorum longus, triceps surae, peroneal, quadriceps, and hamstring muscles.
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Baseline, Week 3, Week 7, Week 15
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Patient-Reported Outcome: R-ODS questionnaire
Aikaikkuna: Baseline, Week 3, Week 7, Week 15
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The Rasch-built Overall Disability Scale (R-ODS) with 24 items is a questionnaire that reflects how neuropathy affects the patient's daily and social activities.
Scale 0 - "impossible" to 48 - "without difficulties".
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Baseline, Week 3, Week 7, Week 15
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Patient-Reported Outcome: FSS Scale
Aikaikkuna: Baseline, Week 3, Week 7, Week 15
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The Fatigue Severity Scale (FSS) is a short questionnaire with 9 items that requires the patient to rate their level of fatigue for each item from 0 - "strongly diasagree" to 7 - "strongly agree".
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Baseline, Week 3, Week 7, Week 15
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Patient-Reported Outcome: QoL NMD v1.0
Aikaikkuna: Baseline, Week 3, Week 7, Week 15
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The Quality of Life in Neuromuscular Disease (QoL NMD v1.0) is a questionnaire with 26 items that assesses the quality of life in patients with neuromuscular disease.
The final score is between 0 -"Poor" and 75 - "Excellent".
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Baseline, Week 3, Week 7, Week 15
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Patient-reported Outcome: NRS Scale
Aikaikkuna: Baseline, Week 3, Week 7, Week 15
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The Numeric Rating Scale (NRS) assesses pain intensity using a 0 - 10 ranking scale with 0 representing "no pain" and 10 "unbearable pain"
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Baseline, Week 3, Week 7, Week 15
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Yhteistyökumppanit ja tutkijat
Sponsori
Opintojen ennätyspäivät
Opi tärkeimmät päivämäärät
Opiskelun aloitus (Todellinen)
Ensisijainen valmistuminen (Arvioitu)
Opintojen valmistuminen (Arvioitu)
Opintoihin ilmoittautumispäivät
Ensimmäinen lähetetty
Ensimmäinen toimitettu, joka täytti QC-kriteerit
Ensimmäinen Lähetetty (Todellinen)
Tutkimustietojen päivitykset
Viimeisin päivitys julkaistu (Todellinen)
Viimeisin lähetetty päivitys, joka täytti QC-kriteerit
Viimeksi vahvistettu
Lisää tietoa
Tähän tutkimukseen liittyvät termit
Avainsanat
Muita asiaankuuluvia MeSH-ehtoja
- Hermoston sairaudet
- Neuromuskulaariset sairaudet
- Geneettiset sairaudet, synnynnäiset
- Ääreishermoston sairaudet
- Neurodegeneratiiviset sairaudet
- Synnynnäiset poikkeavuudet
- Heredodegeneratiiviset häiriöt, hermosto
- Hermoston epämuodostumat
- Polyneuropatiat
- Perinnöllinen sensorinen ja motorinen neuropatia
- Synnynnäiset, perinnölliset ja vastasyntyneiden sairaudet ja poikkeavuudet
- Charcot-Marie-Toothin tauti
Muut tutkimustunnusnumerot
- 2024-A02577-40 (Muu tunniste: ANSM)
Yksittäisten osallistujien tietojen suunnitelma (IPD)
Aiotko jakaa yksittäisten osallistujien tietoja (IPD)?
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