Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test
- Conditions
- Charcot-Marie-Tooth Type 1A Neuropathy
- Interventions
- Diagnostic Test: Exploratory physiopathology study, including non-invasive functional explorations carried out in patients with Charcot-Marie-Tooth disease type 1A
- Registration Number
- NCT05142059
- Lead Sponsor
- University Hospital, Clermont-Ferrand
- Brief Summary
The main objective of this study is to explore the relationship between the onset of fall and the time taken to complete the Timed Up and Go test (TUG) in this CMT1A patient population.
The investigators hypothesize that patients with balance disorders and therefore a risk of major fall will require a longer time to perform the Timed Up and Go test. In addition, it seems important to confirm that the severity of the disease has a negative impact on the frequency of balance disorders.
- Detailed Description
Charcot-Marie Tooth disease is the most frequent and common inherited neuropathy with the various forms and subtypes. The CMT-1A is the most frequent form of the disease and represents more than eighty percent of the all subtypes. In view of different clinical elements (muscular strength deficit, walking and balance disorders, podological impairment), patients with CMT seem to be able to present an increased risk of fall. In 2017 pilot study supports this. More recently, a study by Ramdharry et al. appears to confirm this with a cohort of 252 patients with CMT, 86% of whom have experienced at least one major fall or loss of balance. This increased incidence of falls is also found in children and adolescents with CMT with consequences in terms of injury and management.
Systematic screening of the risk of falls in this population is necessary, but no prospective studies on the occurrence of falls and its detection have yet been carried out in this population.
A study focusing on this issue in order to standardize the assessment of postural control disorders using a simple test of common clinical practice seems necessary.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 42
- Patients older than 18 years
- Diagnosis of Charcot Marie Tooth disease, type 1A confirmed by molecular biology (duplication 17.p11.2) and by a pathological electromyogram, that is to say with demyelinating impairment (+/- axonal) dependent length
- Listening and written French
- Strength of the quadriceps superior to 2/5 MMT MRC
- Agreement after written information, clear and honest about the purpose of the study, the nature of the tests and their possible side effects or bothersome
- Health insurance cover
- Presence of other neurological comorbidity
- Presence of coronary artery disease unstabilized
- Peripheral neuropathy of other causes: diabetes, monoclonal gammopathy, malignancy, solid cancer, systemic autoimmune disease (lupus, Sjögren's disease, Wegener sarcoidosis ...), infectious disease (viral hepatitis, HIV ...), drugs known to be responsible for iatrogenic neuropathy.
- Gait trouble of other origin
- Patients unable to give their consent.
- Intellectual deficit that does not allow to comply with tests
- Patient under guardianship, or protection of justice.
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Experimental cohort Exploratory physiopathology study, including non-invasive functional explorations carried out in patients with Charcot-Marie-Tooth disease type 1A Participants will be involved in an evaluation program combining physical tests and self-administered questionnaires. Participants will be followed for 1 year with evaluations taking place at 6 months (occurrence of a fall) and at 1 year (the same evaluation, as initial).
- Primary Outcome Measures
Name Time Method Main dependent variable: Self-reported occurrence of fall. 6 months , 12 months A fall book will be issued to the patient during the first consultation to trace the date, the circumstances of occurrence. Investigators seek to find an improvement or not in the number of falls at 6 months and 1 year.
Main explanatory variable: Time to complete the Timed Up and Go test (TUG) (in seconds) 1 day , 6 months, 12 months It uses the time that a person takes to rise from a chair, walk three meters, turn around, walk back to the chair, and sit down. Investigators measures an evolution or not at 6 months and 1 years.
- Secondary Outcome Measures
Name Time Method : Muscle Strength measured by Medical Research Council (MRC) Scale Day 0 , 12 months The muscle scale grades muscle power on a scale of 0 to 5 in relation to the maximum expected for that muscle. The patient's effort is graded on a scale of 0-5: Grade 5: Muscle contracts normally against full resistance and Grade 0: No movement is observed.
Maximum voluntary isokinetic strength of the quadriceps muscles at 30°/s (eccentric contraction) (Nm). Day 0 , 12 months Maximum voluntary isokinetic strength of the quadriceps muscles at 30°/s will be measured with the device.
Height (cm). Day 0 , 12 months Height will be measured with a wall mounted tape measure and according to the ISAK recommendations.
Weight (Kg). Day 0 , 12 months Weight will be measured with the medical body weight scale SECA® and according to the ISAK recommendations.
Sarcopenia risk. : Day 0 , 12 months Sarcopenia risk will be evaluated with the SARC-F Questionnaire.
Body Mass Index (Kg/m²). Day 0 , 12 months BMI will be calculated (weight in kilograms divided by height in meters squared).
Maximum voluntary isometric strength of the quadriceps muscles at 45° (Nm). Day 0 , 12 months Maximum voluntary isometric strength of the quadriceps muscles will be measured with the CYBEX device.
Trial Locations
- Locations (1)
CHU de Clermont-Ferrand
🇫🇷Clermont-Ferrand, France