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| ID | Type | Description | Link |
|---|---|---|---|
| 2020-A00344-35 | Other Identifier | ANSM |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Experimental cohort | Experimental | 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). |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Exploratory physiopathology study, including non-invasive functional explorations carried out in patients with Charcot-Marie-Tooth disease type 1A | Diagnostic Test | The data of the gait analysis, posturography and strength analyses as well as the questionnaires' scores will be taken into account in this research. At 6 months and at 1 year, occurrence of a fall will be recorded in order to prospectively monitor this parameter. A final analysis will be carried out at 1 year from the first according to the same methods as the initial assessment. |
| Measure | Description | Time Frame |
|---|---|---|
| Main explanatory variable: Time to complete the Timed Up and Go test (TUG) (in seconds) | 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. | 1 day , 6 months, 12 months |
| Main dependent variable: Self-reported occurrence of fall. | 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. | 6 months , 12 months |
| Measure | Description | Time Frame |
|---|---|---|
| : Muscle Strength measured by Medical Research Council (MRC) Scale | 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. | Day 0 , 12 months |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Emmanuel Coudeyre | University Hospital, Clermont-Ferrand | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU de Clermont-Ferrand | Clermont-Ferrand | 63000 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 20850975 | Result | Reilly MM, Shy ME, Muntoni F, Pareyson D. 168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT). Neuromuscul Disord. 2010 Dec;20(12):839-46. doi: 10.1016/j.nmd.2010.08.001. Epub 2010 Sep 17. No abstract available. | |
| 23182641 | Result | Ramdharry GM, Thornhill A, Mein G, Reilly MM, Marsden JF. Exploring the experience of fatigue in people with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2012 Dec;22 Suppl 3:S208-13. doi: 10.1016/j.nmd.2012.10.016. |
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The patients will be recruited in the PMR and neurology departments within the framework of their pathology (current care) and via an older cohort of CMT1A. During a follow-up medical consultation, patients will be informed about the study. If patients express an interest, participants will be listed as a potential attendee. After reflection, patients will be contacted to confirm their participation and an appointment will be set. An assessment will be carried out within the PMR Department of Clermont-Ferrand University Hospital. The doctor will present the protocol in detail to the patients. Upon reading the information form, the doctor will obtain written consent. Clinical information and the results of the various tests will be recorded. Participants will then be compared with each other and over time. Secondly, patients will be contacted by telephone at 6 months to receive any self-reported fall via a standardized questionnaire.
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| Maximum voluntary isokinetic strength of the quadriceps muscles at 30°/s (eccentric contraction) (Nm). | Maximum voluntary isokinetic strength of the quadriceps muscles at 30°/s will be measured with the device. | Day 0 , 12 months |
| Maximum voluntary isometric strength of the quadriceps muscles at 45° (Nm). | Maximum voluntary isometric strength of the quadriceps muscles will be measured with the CYBEX device. | Day 0 , 12 months |
| Body Mass Index (Kg/m²). | BMI will be calculated (weight in kilograms divided by height in meters squared). | Day 0 , 12 months |
| Height (cm). | Height will be measured with a wall mounted tape measure and according to the ISAK recommendations. | Day 0 , 12 months |
| Weight (Kg). | Weight will be measured with the medical body weight scale SECA® and according to the ISAK recommendations. | Day 0 , 12 months |
| Sarcopenia risk. | Sarcopenia risk will be evaluated with the SARC-F Questionnaire. | : Day 0 , 12 months |
| 22475878 | Result | Ribiere C, Bernardin M, Sacconi S, Delmont E, Fournier-Mehouas M, Rauscent H, Benchortane M, Staccini P, Lanteri-Minet M, Desnuelle C. Pain assessment in Charcot-Marie-Tooth (CMT) disease. Ann Phys Rehabil Med. 2012 Apr;55(3):160-73. doi: 10.1016/j.rehab.2012.02.005. Epub 2012 Mar 6. English, French. |
| 31652506 | Result | Reynaud V, Muti D, Pereira B, Greil A, Caillaud D, Richard R, Coudeyre E, Costes F. A TUG Value Longer Than 11 s Predicts Fall Risk at 6-Month in Individuals with COPD. J Clin Med. 2019 Oct 22;8(10):1752. doi: 10.3390/jcm8101752. |
| 25286435 | Result | Anens E, Emtner M, Hellstrom K. Exploratory study of physical activity in persons with Charcot-Marie-Tooth disease. Arch Phys Med Rehabil. 2015 Feb;96(2):260-8. doi: 10.1016/j.apmr.2014.09.013. Epub 2014 Oct 5. |
| ID | Term |
|---|---|
| D002607 | Charcot-Marie-Tooth Disease |
| ID | Term |
|---|---|
| D015417 | Hereditary Sensory and Motor Neuropathy |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D011115 | Polyneuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
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