Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 42
- 试验地点
- 1
- 主要终点
- Main dependent variable: Self-reported occurrence of fall.
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •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.
研究组 & 干预措施
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).
干预措施: Exploratory physiopathology study, including non-invasive functional explorations carried out in patients with Charcot-Marie-Tooth disease type 1A (Diagnostic Test)
结局指标
主要结局
Main dependent variable: Self-reported occurrence of fall.
时间窗: 6 months , 12 months
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.
Main explanatory variable: Time to complete the Timed Up and Go test (TUG) (in seconds)
时间窗: 1 day , 6 months, 12 months
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.
次要结局
- Weight (Kg).(Day 0 , 12 months)
- Sarcopenia risk.(: Day 0 , 12 months)
- : Muscle Strength measured by Medical Research Council (MRC) Scale(Day 0 , 12 months)
- Maximum voluntary isokinetic strength of the quadriceps muscles at 30°/s (eccentric contraction) (Nm).(Day 0 , 12 months)
- Height (cm).(Day 0 , 12 months)
- Body Mass Index (Kg/m²).(Day 0 , 12 months)
- Maximum voluntary isometric strength of the quadriceps muscles at 45° (Nm).(Day 0 , 12 months)