Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test (DeteCTCMT)

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Charcot-Marie-Tooth Type 1A Neuropathy
• Intervention / Treatment: Diagnostic test: Exploratory physiopathology study, including non-invasive functional explorations carried out in patients with Charcot-Marie-Tooth disease type 1A

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.

• Study Type: Interventional
• Enrollment (Estimated): 41
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Clermont-Ferrand, France, 63000
    • CHU de Clermont-Ferrand

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• 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

Exclusion Criteria:

• 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 Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Experimental: Experimental cohort; 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).

Diagnostic test: Exploratory physiopathology study, including non-invasive functional explorations carried out in patients with Charcot-Marie-Tooth disease type 1A; 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Secondary Outcome Measures

Outcome Measure	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
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

Collaborators and Investigators

• Sponsor: University Hospital, Clermont-Ferrand
• Investigators: Principal Investigator: Emmanuel COUDEYRE, University Hospital, Clermont-Ferrand

Publications and helpful links

General Publications

• 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.
• 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.
• 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.
• 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.
• 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.

Study record dates

Study Major Dates

• Study Start (Actual): September 3, 2020
• Primary Completion (Actual): December 18, 2023
• Study Completion (Estimated): December 16, 2024

Study Registration Dates

• First Submitted: October 12, 2021
• First Submitted That Met QC Criteria: November 18, 2021
• First Posted (Actual): December 2, 2021

Study Record Updates

• Last Update Posted (Actual): February 14, 2024
• Last Update Submitted That Met QC Criteria: February 13, 2024
• Last Verified: August 1, 2023

More Information

Terms related to this study

• Keywords: Walking; Fall risk; Timed Up and Go test; Charcot-Marie-Tooth disease type 1A neuropathy; 6-Minutes Walk test
• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Neuromuscular Diseases; Stomatognathic Diseases; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Nervous System Malformations; Polyneuropathies; Disease; Tooth Diseases; Nerve Compression Syndromes; Charcot-Marie-Tooth Disease; Hereditary Sensory and Motor Neuropathy
• Other Study ID Numbers: RBHP 2020 REYNAUD 2; 2020-A00344-35 (Other Identifier: ANSM)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No