- ICH GCP
- Registr klinických studií v USA
- Klinická studie 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.
Přehled studie
Postavení
Podmínky
Intervence / Léčba
Detailní popis
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.
Typ studie
Zápis (Odhadovaný)
Fáze
- Nelze použít
Kontakty a umístění
Studijní kontakt
- Jméno: Laurent Bensoussan, MD
- Telefonní číslo: +33 4 91 74 42 00
- E-mail: laurent.bensoussan@ugecam.assurance-maladie.fr
Studijní záloha kontaktů
- Jméno: Clotilde Pheulpin, MD
Studijní místa
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Marseille, Francie, 13009
- Nábor
- IUR Valmante Sud
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Kontakt:
- Laurent Bensoussan, MD
- Telefonní číslo: +33 4 91 74 42 00
- E-mail: laurent.bensoussan@ugecam.assurance-maladie.fr
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Kritéria účasti
Kritéria způsobilosti
Věk způsobilý ke studiu
- Dospělý
- Starší dospělý
Přijímá zdravé dobrovolníky
Popis
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.
Studijní plán
Jak je studie koncipována?
Detaily designu
- Primární účel: Podpůrná péče
- Přidělení: Randomizované
- Intervenční model: Paralelní přiřazení
- Maskování: Čtyřnásobek
Zbraně a zásahy
Skupina účastníků / Arm |
Intervence / Léčba |
|---|---|
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Experimentální: 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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Falešný srovnávač: 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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Co je měření studie?
Primární výstupní opatření
Měření výsledku |
Popis opatření |
Časové okno |
|---|---|---|
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Berg Balance Scale
Časové okno: At enrollment, at the end of rehabilitation, 5 weeks after the end of rehabilitation, 13 weeks after the end of rehabilitation
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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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At enrollment, at the end of rehabilitation, 5 weeks after the end of rehabilitation, 13 weeks after the end of rehabilitation
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Sekundární výstupní opatření
Měření výsledku |
Popis opatření |
Časové okno |
|---|---|---|
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CMT Neuropathy Score
Časové okno: At enrollment, at the end of rehabilitation, 5 weeks after the end of rehabilitation, 13 weeks after the end of rehabilitation
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This validated score provides a reliable measure of overall neuropathy severity.
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At enrollment, at the end of rehabilitation, 5 weeks after the end of rehabilitation, 13 weeks after the end of rehabilitation
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Spolupracovníci a vyšetřovatelé
Sponzor
Termíny studijních záznamů
Hlavní termíny studia
Začátek studia (Aktuální)
Primární dokončení (Odhadovaný)
Dokončení studie (Odhadovaný)
Termíny zápisu do studia
První předloženo
První předloženo, které splnilo kritéria kontroly kvality
První zveřejněno (Aktuální)
Aktualizace studijních záznamů
Poslední zveřejněná aktualizace (Aktuální)
Odeslaná poslední aktualizace, která splnila kritéria kontroly kvality
Naposledy ověřeno
Více informací
Termíny související s touto studií
Klíčová slova
Další relevantní podmínky MeSH
- Nemoci nervového systému
- Neuromuskulární onemocnění
- Genetické choroby, vrozené
- Onemocnění periferního nervového systému
- Neurodegenerativní onemocnění
- Vrozené vady
- Heredodegenerativní poruchy, nervový systém
- Malformace nervového systému
- Polyneuropatie
- Dědičná senzorická a motorická neuropatie
- Vrozené, dědičné a neonatální nemoci a abnormality
- Charcot-Marie-Tooth nemoc
Další identifikační čísla studie
- 2024-A02577-40 (Jiný identifikátor: ANSM)
Plán pro data jednotlivých účastníků (IPD)
Plánujete sdílet data jednotlivých účastníků (IPD)?
Informace o lécích a zařízeních, studijní dokumenty
Studuje lékový produkt regulovaný americkým FDA
Studuje produkt zařízení regulovaný americkým úřadem FDA
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