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

Charcot-Marie-Tooth Type 1A Neuropathy Clinical Trial

— DeteCTCMT  

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT05142059
• Other study ID #: RBHP 2020 REYNAUD 2
• Secondary ID: 2020-A00344-35
• Status: Active, not recruiting
• Phase: N/A
• Start date: September 3, 2020
• Est. completion date: December 16, 2024

Study information

• Verified date: August 2023
• Source: University Hospital, Clermont-Ferrand
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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 information / eligibility

• Status: Active, not recruiting
• Enrollment: 41
• Est. completion date: December 16, 2024
• Est. primary completion date: December 18, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Charcot-Marie-Tooth Disease
• Charcot-Marie-Tooth Type 1A Neuropathy
• Disease
• Hereditary Sensory and Motor Neuropathy
• Nerve Compression Syndromes
• Tooth Diseases

Intervention

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.

Locations

Country	Name	City	State
France	CHU de Clermont-Ferrand	Clermont-Ferrand

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Clermont-Ferrand

Country where clinical trial is conducted

France, 

References & Publications (5)

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. — View Citation

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. — View Citation

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 abstra — View Citation

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. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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	: 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
Secondary	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
Secondary	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
Secondary	Body Mass Index (Kg/m²).	BMI will be calculated (weight in kilograms divided by height in meters squared).	Day 0 , 12 months
Secondary	Height (cm).	Height will be measured with a wall mounted tape measure and according to the ISAK recommendations.	Day 0 , 12 months
Secondary	Weight (Kg).	Weight will be measured with the medical body weight scale SECA® and according to the ISAK recommendations.	Day 0 , 12 months
Secondary	Sarcopenia risk.	Sarcopenia risk will be evaluated with the SARC-F Questionnaire.	: Day 0 , 12 months