Active clinical trials for "Ataxia"

To investigate the effects of whole body vibration on postural control and on the level of satisfaction regarding how to reach the goals of the patients with ataxia

Neurodegenerative cerebellar ataxias represent a group of disabling disorders for which we currently lack effective therapies. Cerebellar transcranial direct current stimulation (tDCS) is a non-invasive technique, which has been demonstrated to modulate cerebellar excitability and improve symptoms in patients with cerebellar ataxias. In this randomized, double-blind, sham-controlled study, the investigators will evaluate whether a two-weeks' treatment with cerebellar anodal tDCS and spinal cathodal tDCS can improve symptoms in patients with neurodegenerative cerebellar ataxia and can modulate cerebello-motor connectivity, at short and long term.

Test the Efficacy of Home Biofeedback Training: Currently, biofeedback requires a skilled therapist and sophisticated equipment and is not widely available. The investigators designed and tested a novel home biofeedback device and predict that home training will be as effective as office biofeedback therapy. Our specific aims are to perform a randomized controlled trial of 100 subjects with dyssynergic defecation to investigate: (A) Whether a self-administered, home-biofeedback training program with a new portable device is as effective as office-based biofeedback therapy in improving i) physiology- dyssynergia (defecation index), and ability to expel simulated stool, and ii) symptomatology- satisfaction with bowel function, number of complete spontaneous bowel movements, stool consistency, straining and quality of life. (B) Whether home-training is more cost-effective than office-based biofeedback training.

The purpose of this study is to determine safety and tolerability of the treatment with lithium in Spinocerebellar Ataxia 2. Moreover, clinical symptoms, neuronal loss, quality of life and depressive symptoms, will be considered to further investigate the effect of lithium therapy.

Spinocerebellar ataxia (SCA) is a group of inherited disorders characterized by cerebellar degeneration leading to imbalance, incoordination, speech difficulties and problems with walking. Recently, individual case reports have suggested that varenicline, a drug used in smoking cessation, produces substantial improvement in patients with several inherited ataxias. A modest response was noted in 5 patients with SCA, suggesting that it is potentially efficacious in this disorder as well. Although this agent is available for off-label use, the severe side effects noted with its use and the lack of long-term toxicity data demand that it be systematically assessed. The present study will test whether varenicline is safe and potentially efficacious in a heterogeneous cohort of adults with SCA.

This is an Extension study of the MICONOS main randomised placebo-controlled trial (NCT00905268), and open to those patients completing the main study. The scientific aim of this extension study is to monitor safety and tolerability of idebenone over two years in patients with Friedreich's Ataxia.

The primary objective of this study is to evaluate the long-term safety and tolerability of deferiprone in subjects with Friedreich's ataxia (FRDA). The secondary objective is to evaluate the long-term efficacy of deferiprone for the treatment of FRDA. The tertiary objectives are to evaluate the effect of deferiprone on: cardiac function, quality of life, and functional status.

The hereditary cerebellar ataxias include diverse neurodegenerative disorders. Hereditary ataxias can be divided into autosomal dominant ataxias (ADCAs), autosomal recessive ataxias (ARCAs), X-linked, and mitochondrial ataxias on the basis of mode of inheritance. The key feature in all these disorders is ataxia typically characterised by poor balance, hand incoordination, postural or kinetic tremor, dysarthria and dysphagia. To date no treatment has been shown to slow progression of the disease and symptomatic therapies are limited to few options that are partially effective. Purkinje cells project inhibitory signals to the deep cerebellar nuclei(DCN) which have a critical role in cerebellar function and motor performance. DCN neurons fire spontaneously in the absence of synaptic input from Purkinje neurons and modulation of the DCN response by Purkinje input is believed to be responsible for coordination of movement, while uncontrolled spontaneous firing of DCN neurons may underlay cerebellar ataxia. Recent studies have demonstrated that small-conductance calcium-activated potassium (SK) channels inhibitor are able to increase DCN firing rate. Since SK channels are critical regulators of DCN firing rate, SK openers such as the drug riluzole may reduce neuronal hyperexcitability and thereby be useful in the therapy of cerebellar ataxia. On this base the investigators published a pilot study in patients with chronic cerebellar ataxia (Ristori et al., Neurology 2010) investigating safety and efficacy of riluzole or placebo administration for 8 weeks. The results demonstrated a significative improvement in International Cooperative Ataxia Rating Scale (ICARS) global score after four weeks and after 8 weeks in the riluzole arm. The present protocol is aimed at verifying the safety and efficacy of riluzole administration for a longer period, in a larger sample size of patients, with more stringent diagnostic criteria (hereditary cerebellar ataxia), respect to the above pilot study. Sixty patients will be enrolled in a double-blind, placebo-controlled trial. By central randomisation, patients will take 50 mg of riluzole or placebo twice daily for 12 months. Treatment effects will be assessed by comparing the Scale for the Assessment and Rating of Ataxia (SARA) before treatment and during therapy at months 3 and 12.

This study will evaluate the side effects and tolerability of the drug lithium in patients with spinocerebellar ataxia type I (SCA1) an inherited disorder caused by loss of nerve cells in parts of the brain. Symptoms include ataxia (difficulty walking) and loss of muscle coordination and strength. Recent studies suggest that lithium may be helpful in treating some SCA1 symptoms. People between 18 and 65 years of age with SCA1 who have only difficulty walking or who have difficulty walking as well as tremor, hand incoordination or speech problems, may be eligible for this study. Participation requires three hospital admissions at the NIH Clinical Center and one outpatient visit. Participants undergo the following tests and procedures: Admission 1 (2-6 weeks) Medical history, physical examination, blood and urine tests, electrocardiogram. Evaluation of SCA1 symptoms (balance, walking, dexterity, tremor, memory, mood and concentration). Monitoring of liquid intake and output (urine) and weight changes. Lithium treatment Start treatment and remain in hospital until the blood level of the drug is stabilized; continue treatment at home after hospital discharge. Admission 2 (2-4 days, 4 weeks after hospital discharge). Repeat of some or all of the procedures done at the first admission. Continue lithium in hospital and at home after discharge, with local physician checking laboratory values as needed. Admission 3 (2-4 days, 8 weeks after Admission 2). Repeat of some or all of the procedures done at other admissions. Stop lithium. Outpatient Visit (4 weeks after Admission 3) Evaluation of SCA1 symptoms. Blood and urine tests.

The purpose of this study is to determine if memantine is effective in treating symptoms of Fragile X-associated Tremor Ataxia Syndrome.