Active clinical trials for "Cerebellar 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.

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.

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.

This research is being done to find out if Baclofen, a medicine that is often used for the treatment of abnormal stiffness, might also be useful to treat some of the neurologic problems caused by ataxia telangiectasia (A-T). The investigators also want to find out if there are better ways to measure the problems of ataxia and abnormal eye movement for future studies of medication in ataxia telangiectasia.

Cerebellar ataxias of late onset are of undetermined etiology in many cases. A new cause of late-onset cerebellar ataxia was discovered in January 2023 corresponding to an expansion of GAA triplets in intron 1 of the FGF14 gene. However, this cerebellar ataxia is still poorly known and requires further investigations to know its clinical phenotype and its evolution in order to propose a diagnosis and a genetic counseling adapted to patients and families. The objective of our study will be to describe the clinical and genotypic phenotype of patients with GAA-FGF14

Investigators expect there will be improvement in walking speed and steadiness after taking Dalfampridine, thereby improving activities of daily living and enhancing social and occupational functions for patients with spinocerebellar ataxia.

This is a pilot/feasibility study designed to investigate the feasibility of treating children with Ataxia-Telangiectasia (A-T) and cancer with regimens nearly as intense as non-A-T patients with cancer would receive.

The purpose of this study is to determine the safety, tolerability and pharmacokinetics (PK) of single and multiple rising doses of TAK-831 in healthy participants.