Active clinical trials for "Ataxia"

The purpose of this study is to examine the effects of EPI-743 on visual function and neurologic function in patients with Friedreich's ataxia.

The Cerebellum contains ten percent of the total volume of the brain and receives brain, spinal cord and vestibular sensory input. The organization of vestibular and somato-sensory afferent informations are also reported to be impaired in patients with cerebellum dysfunctions. Ataxia and impaired balance control are common symptoms in individuals with spinocerebellar ataxia (SCA). Previous studies have shown that patient with cerebellar damage are usually agonist and antagonist muscle coordination problem. Past studies also found the regulation of reciprocal Ia inhibition was impaired in patients with spinaocerebellar ataxia. In chronic phase, weakness might be developed due to deconditioned. All deficits mentioned above might lead to a decrease functional ability. Therefore, increasing somato-sensory and vestibular input, normalizing the modulation of recriprocal inhibition, and improve muscle strength might be able to improve the functional abilities of individuals with SCA. Recently, whole body vibration (WBV) has been trained for health groups. Studies showed that WBV training were able to improve muscle strength, balance control, and functional ability. However, there is no evidence showed that whether the whole body vibration training can affect the brain and spinal cord for the regulation of neural circuits. Whether also can affect for maximal voluntary contraction and improve central fatigue. No previous studies that whole body vibration training for SCA. Therefore, the purpose of this research was to investigate the intracortical facilitation and inhibition, reciprocal Ia inhibition, low frequency depression, maximal voluntary contraction, interpolated twitch technique to compare the different between the SCA and health subject. Also to investigate the short term and long term effect of WBV.

We propose a study on Ataxia with oculomotor apraxia type 1 (AOA1) in which Coenzyme Q10 (CoQ10) deficit has been observed. Main objectives of the study are : To monitor evolution of albumin in patients affected with AOA1 while supplemented with CoQ10 ; To measure with clinical scales and biological markers efficacy of supplementation on disease evolution. AOA1 is characterised by Hypoalbuminemia. Disease duration is negatively correlated with albumin level. This study aims to understand mechanisms of the disease and our hypothesis is that correction or stabilization of albumin level with CoQ10 supplementation could impact disease evolution. The study is planned from 1 to 2 years supplementation. The CoQ10 is classified as a food supplement and has already been tested in other neurological conditions.

Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. The purpose of this study is to assess the safety and tolerability of dantrolene sodium in patients with Wolfram syndrome. In addition, we will assess the efficacy of dantrolene sodium on the cardinal manifestations of Wolfram syndrome, including visual acuity, remaining beta cell functions, and neurological functions. There is a screening period up to 56 days, a 6-month treatment period with an optional extension phase up to 24 months, and a 4-week safety follow-up period. Study assessments include medical & medication history, physical exams, neurological exams, eye exams, endocrine exams, vital signs, height, weight, electrocardiograms, blood and urine tests, pregnancy test if applicable, and questionnaires.

Spinocerebellar ataxia (SCA) is a hereditary disorder with movement incoordination. The ataxia performed low intra-cortical facilitation mainly due to the degenerative cerebellum. Noninvasive sensory stimulations such as peripheral electrical stimulation were reported to modulate the excitability of the motor excitability. Neuromuscular electrical stimulation (NMES) was proposed as a neuromodulation tool for the aberrant motor excitability on the SCA. This study aims to investigate the effect of NMES on the motor excitability in the SCA, and the differentiation on the central or peripheral motor excitability changed by the NMES.

Friedreich's ataxia (FRDA) is a rare genetic disorder characterised by severe neurological disability and cardiomyopathy. Friedreich's ataxia is the consequence of frataxin deficiency. Although several drugs have been proposed, there is no available treatment. Four trials recently demonstrated that erythropoietin can increase the intracellular levels of frataxin. The present project is aimed at testing a long term therapeutic approach using erythropoietin, which is an already available and commercialised drug. The study will test the effect of erythropoietin on exercise capacity, which is reduced in patients with FRDA. Additional objectives of the study will be the drug's safety and tolerability, and its effect on frataxin, blood vessel reactivity, heart functional indexes, and disease progression.

Friedreich ataxia, an autosomal recessive condition, ascribed to frataxin gene expansion, has been shown to result from an iron- induced injury to the mitochondrial respiratory chain. Buffering free radicals with short-chain quinones (Idebenone) protects the patients against cardiomyopathy but not CNS involvement. Removing CNS iron should limit the impact of the neurological symptoms of the disease.

Forty children with cerebellar ataxia ranged in age from five to nine years old, they were randomly assigned into two matched control and study groups. The control groups received the selected physical therapy program three times weekly one hour per session while the study group received core stability training for 30 minutes in addition to the selected physical therapy program. Both groups were evaluated by SARA Scale for the Assessment and Rating of Ataxia, Balance Error Scoring Systems scale, Bruininks-Oseretsky test of motor Proficiency 2ed subtest 4 (bilateral coordination), and subtest 7 (upper limb coordination), and HUMAC Balance System before and after two months of intervention.

This research study is testing body-worn sensors to measure movement during simple tests of coordination, in order to evaluate the progression and severity of ataxia.

Virtual reality (VR) is a three-dimensional image, which is created by means of computer programs. In most educational communities VR has been used as an opportunity to support many students. VR allows the user to observe the world generated for their own needs as the real world and experience impressions that are not available in real life. It was decided to examine how immersive VR-game will affect the eye-hand coordination on music school students. The experimental group received a five-day training sessions using immersive VR game "Beat Saber", while control group was inactive comparator.