Longitudinal Monitoring of Energy Expenditure, Dynamic Stability and Fatigue During Gait in Patients With Cerebellar Ataxia Gene
Condition: Cerebellar Ataxia
MeSH terms: Ataxia; Cerebellar Ataxia
Study type: Interventional

Summary: 
      Genetic cerebellar ataxias involves progressive degeneration of the cerebellum. Their overall
      prevalence is estimated at 2-4 cases per 100 000 people. These diseases are manifested by a
      static and kinetic cerebellar syndrome characterized by impaired balance, coordination, and
      an ataxic gait. To date, no therapy is available for patients and physical therapy is
      essential and recommended. The evolution of the pathology causes a degradation of walking,
      increased instability and risk of falling. In one year, between 74% and 93% of patients
      reported having fallen at least once. Falls prevention by understanding the mechanisms
      affecting stability is a major issue in the management of these patients physiotherapy. The
      analysis of the literature, we assume that there exists a trio "fatigue - instability -
      energy expenditure" in which the three parameters would influence each other. To date, we do
      not have data to characterize these interrelationships and their evolution over time.

      STUDY OBJECTIVES: The main objective is to study the relationship between changes in energy
      expenditure and changes in instability when walking at one year in patients with cerebellar
      ataxia gene. The secondary objectives are to study, after one year of development, the
      relationship between fatigue, instability, energy consumption, the number of falls, the
      severity of ataxia and quality of life.

      CONDUCT OF THE STUDY: This is a pilot, multicenter, interventional. The projected duration of
      patient recruitment will be 12 months and the total number of patients will be included in
      15. The duration of participation in this study is 12 months for each patient. The
      anticipated duration of the study is 30 months. Development of the study: Patients included
      will perform two sets (S1 and S2) tests a year apart including the evaluation of ataxia
      according Scale for the assessment and rating of ataxia (SARA); measuring the quality of life
      through SF36 (The Short Form (36)) Questionnaire; quantifying the severity of fatigue
      perceived by FSS questionnaire quantifying the severity of physical tiredness by VAS before
      and after physical activity; quantified analysis of walking on walking track GAITRite® (with
      score calculation FAP and GVI) before and after physical activity; physical activity like
      walking on a treadmill (with measurement of maximal voluntary quadriceps by manual
      dynamometer before and after physical activity to ensure the induction of fatigue). Patients
      will be provided with a portable device for analyzing gas exchange FitMateMED® (COSMED, Rome,
      Italy) during walking analyzes GAITRite®.
    


Intervention name(s): Longitudinal Monitoring of Energy Expenditure, Dynamic Stability and Fatigue During Gait; walking track GAITRite,manual dynamometer, and treadmill
Intervention type(s): Other; Other
Intervention model: Single Group Assignment
Masking: None (Open Label)
Primary purpose: Treatment