Clinical trial NCT05142059: Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test
Official title: Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Charcot-Marie-Tooth Type 1A Neuropathy
Keywords: Charcot-Marie-Tooth disease type 1A neuropathy
Fall risk
Walking
Timed Up and Go test
6-Minutes Walk test
Lead sponsor: University Hospital, Clermont-Ferrand
Sponsor class: OTHER
First posted: 2021-12-02
Enrollment: 42
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: 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.
Primary purpose: DIAGNOSTIC

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Main explanatory variable: Time to complete the Timed Up and Go test (TUG) (in seconds)
timeFrame: 1 day , 6 months, 12 months
measure: Main dependent variable: Self-reported occurrence of fall.
timeFrame: 6 months , 12 months
Secondary outcomes:
measure: : Muscle Strength measured by Medical Research Council (MRC) Scale
timeFrame: Day 0 , 12 months
measure: Maximum voluntary isokinetic strength of the quadriceps muscles at 30°/s (eccentric contraction) (Nm).
timeFrame: Day 0 , 12 months
measure: Maximum voluntary isometric strength of the quadriceps muscles at 45° (Nm).
timeFrame: Day 0 , 12 months
measure: Body Mass Index (Kg/m²).
timeFrame: Day 0 , 12 months
measure: Height (cm).
timeFrame: Day 0 , 12 months
measure: Weight (Kg).
timeFrame: Day 0 , 12 months
measure: Sarcopenia risk.
timeFrame: : Day 0 , 12 months
Other outcomes:
Locations:
city: Clermont-Ferrand
country: France
facility: CHU de Clermont-Ferrand
Study officials:
affiliation: University Hospital, Clermont-Ferrand
name: Emmanuel Coudeyre
role: PRINCIPAL_INVESTIGATOR
References:
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 abstract available.
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.
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.2012.02.005. Epub 2012 Mar 6. English, French.
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.
citation: 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.