NCT05142059

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

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 42 (actual)
• Sponsor: University Hospital, Clermont-Ferrand · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Charcot-Marie-Tooth Type 1A Neuropathy

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2020-09-03
• Primary completion: 2023-12-18
• Completion: 2024-12-13
• First posted: 2021-12-02
• Last updated: 2024-12-27

Locations

1 site across 1 country: France