Active clinical trials for "Ataxia"

Study design: Parallel group, placebo-controlled, dose-escalation each 2 months for 12 months. Dose based on percent (%) of calculated caloric intake. Thirty participants will be randomised in blocks on a 1:1:1 ratio into one of three groups stratified by age (< 5 years, 5-10 years, > 10 years of age). Group 1: 10%, 20%, 35%, 35%, 35% (no placebo). Group 2: placebo, 10%, 20%, 35%, 35% Group 3: placebo, placebo, 10%, 20%, 35%. Primary endpoint: The percent cell death induced by glucose deprivation in cell culture. Secondary endpoints include: Scales for assessment and rating of ataxia, International Cooperative Ataxia Rating Scale, Ataxia Telangiectasia Neurological Examination Scale Toolkit, speech and language assessment, EyeSeeCam assessment, MRI lung imaging, Lung function, Upper respiratory microbiome, Faecal microbiome, Survival and inflammatory phenotype of airway epithelial cells, macrophages and in serum, Metabolomic biomarker discovery in serum and measurement of neuroflament light chain.

Spinocerebellar atrophy is the most common autosomal dominant inherited ataxia. There are over thirty subtypes, which characterize neurologic features differently. They all have obvious substantial cerebellar atrophies in image, and unstable gait、ataxia. In general a prevalence of about three cases per 100 000 people is assumed, but this may be an underestimate. Progressive neurologic degeneration, in about 10-20 years, will leads to disability or wheelchair-dependent. Accompanying with fatigue, downhill course of the disease often made patients depressive and hopeless. The recent review of researches concludes no effective therapy for the disease. The purpose of the investigator's study is to explore the Tai-chi exercise effect for spinocerebellar ataxia.

The purpose of this protocol is to (1) Determine whether a one-on-one mindfulness meditation intervention or audio training improves performance on an adaptive communication system that utilizes brain-computer interface (BCI); and (2) Determine whether the intervention reduces stress in subjects with severe speech and physical impairments (SSPI). Hypothesis: The group of subjects randomized to the mindfulness meditation training will improve BCI performance and stress levels more than the audio control group.

The purpose of this study is to document the clinical effects of bupropion and citalopram in a single subject with Friedreich Ataxia.

This is a Physician-sponsored pilot study, whose purpose it is determine if high-dose oral Coenzyme Q10 (CoQ10) is safe and tolerated in patients with sporadic forms of adult-onset spinocerebellar ataxias (SAOA), a group of degenerative neurological disorders affecting the cerebellum and pathways to and from the cerebellum, with or without additional central nervous system (CNS) manifestations, in the absence of family history of degenerative ataxias.

Ataxia Telangiectasia (AT) is an autosomal recessive inherited condition caused by mutations in the ATM gene1. Patients suffer from neuro-degenerative problems, usually commencing in the second year of life, and affecting predominantly the cerebellum. They also develop the characteristic superficial telangiectases. Between 60 and 80% of affected children are immunodeficient. This is associated with deficiency of immunoglobulin A (IgA ) 2, of IgG23 and of antibody responses to pneumococcal polysaccharides4. Patients suffer recurrent sino-pulmonary infections but a recent study suggests poor correlation between immune status and immunological parameters5. If uncontrolled, recurrent pulmonary infections can contribute to the development of chronic lung disease and bronchiectasis. Preventative management includes continuous prophylactic antibiotic treatment in some with the need for replacement immunoglobulin therapy in only a small proportion of cases. Antibiotics have been reasonably effective in this situation but the emergence of resistance amongst community acquired pneumococcal isolates is a cause for concern. Appropriate immunisation strategies may also have a role. This study is designed to look at antibody responses in a one versus two dose regimen in a cohort of AT patients recruited through the AT Society a national charitable organisation involved in providing support to families with this condition and in fostering education and research in the field.

FXTAS is a rare genetic progressive neurodegenerative disorder, linked to a trinucleotide repeat expansion in the FMR1 gene. FXTAS is characterized by tremor and ataxia in addition to atrophy and white matter disease in the central nervous system (CNS). In addition to the major clinical observations of intention tremor and gait dysfunction, minor symptoms of parkinsonism, neuropathy, and cognitive decline also significantly impact individuals with FXTAS. The dietary supplement being tested in this study is called Sulforaphane. It is found in broccoli and similar cruciferous vegetables and may cause some gas and discomfort. This is not a study looking at clinical efficacy but instead a study of molecular outcome measures. Investigators want to get more information about how Sulforaphane affects specific biomolecular markers captured in blood. In this study, participants will be taking an increasing amount of the Sulphoraphane supplement pills (238mg/tablet), starting at 1 and increasing to 6, every morning at breakfast for 6 months. In addition, there will be a total of 3 visits (Initial, 3-month and 6-month) to the MIND Institute where participants will be evaluated. At each visit (3 total) participants will undergo a battery of medical and neurologic exams which make take 2-3 days to complete each time. Participants and/or their caregivers will also be asked to fill out questionnaires/surveys. At the initial visit and at 6 months, we will collect blood for analysis. Two MRI scans will be done, also at the initial visit and at 6 months.

Cerebellar ataxias are a group of disorders caused by cerebellar affections, for which currently no specific treatment is available. Some limited studies verified the effects of cerebellar transcranial magnetic stimulation (TMS) on ataxic symptoms, with good results. So far it is not known which patients could benefit. Our hypothesis is that cerebellar TMS could improve ataxic symptoms in some patients.

Neurodegenerative ataxia represents a group of disabling diseases. No effective treatment is currently available for them. Currently, studies are going on the effectiveness of noninvasive neurostimulation in neurodegenerative diseases. Transcranial pulsed current stimulation (tPCS) is a new modality of noninvasive neurostimulation. The investigators have planned to study the efficacy of tPCS in these patients of neurodegenerative ataxia. Patients will be first examined clinically along with the rating of ataxia, assessment of upper limb coordination and speech as per protocol. Quantitative Electroencephalography (qEEG) and gait analysis will be done as per protocol. Next, a single session of 20 min non-invasive stimulation will be given via tPCS or sham stimulation. Stimulation will be given to cerebellum and dorsal spinal cord. After 20 mins of stimulation, re-assessment will be done using the same tools mentioned pre-stimulation.

The purpose of this study is to learn how treatment with acetyl-L-carnitine (ALCAR) will affect the hearts of patients with Friedreich's Ataxia as well as how it may affect other symptoms of Friedreich's Ataxia such as difficulties with balance, walking, or upper arm function.