Active clinical trials for "Ataxia"

This study will determine whether a drug called idebenone is safe and effective in reducing the level of oxidants that are believed to damage the nervous system and hearts in patients with Friedreich's ataxia. Friedreich's ataxia is caused by an abnormality in the gene that makes a protein called frataxin, which is necessary for the proper functioning of energy-producing parts of cells called mitrochondria. In Friedreich's ataxia, the mitochondria become overloaded with iron, and high levels of harmful compounds called oxidants are formed. These oxidants are believed to damage the cells of the nervous system and hearts of people with Friedreich's ataxia. Idebenone is a man-made drug similar to a naturally occurring compound known as Coenzyme Q10. This study will test whether idebenone can alleviate some of the symptoms of Friedreich's ataxia and slow or halt the progression of the disease. Patients with genetically confirmed Friedreich's ataxia who are between 9 and 18 years of age, weigh between 65 and 175 pounds and can walk 25 feet with or without an assistive device may be eligible for this study. Candidates are screened with blood tests and a review of their medical records. Participants undergo the following tests and procedures: Medical interview and physical examination. Tests include blood and urine tests, an electrocardiogram, or EKG (recording of the electrical activity of the heart), echocardiogram (ultrasound test showing the pumping action of the heart, thickness of the heart walls, and any valve leakage), and a detailed neurological examination, including maneuvers such as copying a drawing and putting pegs in a board. Patients' parents are asked questions about how they feel their child's disease affects the child's quality of life. Magnetic resonance imaging (MRI) to examine the heart muscle and blood flow to the heart. MRI uses a magnetic field and radio waves to produce images of body tissues and organs. The patient lies on a table that is moved into the doughnut-shaped MRI scanner, wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning process. A catheter (plastic tube) is placed in a vein in the child's arm so that a chemical called gadolinium can be injected during the MRI study. Gadolinium brightens areas of the heart, improving the ability to see the heart and blood flow. Physical medicine and rehabilitation evaluations to test the child's physical functioning. These tests include gait evaluation, measurements of the ability to exert and maintain a constant force, assessment of visual-motor control and fine motor control, aerobic exercise endurance testing, and measurement of the ability of the child's heart and lungs to increase their effectiveness with exercise. Idebenone/placebo treatment. Patients are given a 6-month supply of either idebenone pills or placebo (pills that look like the study drug but have no active ingredient) to take three times a day. Patients are seen by their primary care physician after 1 and 3 months on the study medication for a brief physical examination. In addition, they have blood and urine tests once a month while on medication to check for any abnormalities. 6-month examination. After 6 months on the study drug, patients return to NIH to repeat all the tests listed above to determine the effects of idebenone treatment.

Cerebellar disorders are often disabling and symptomatic therapies are limited to few options that are partially effective. It seems therefore appropriate to search for additional approaches. Purkinje cells are the sole output of the cerebellar cortex: they 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. Recent evidences support the notion that an increase in DCN excitability may be an important step in the development of cerebellar ataxia and point to the underlying molecular mechanisms: the inhibition of small-conductance calcium-activated potassium (SK) channels, that causes an increase of the firing frequency in DCN, correlates with cerebellar ataxia. The rationale of the present project is that SK channel openers, such as riluzole, may have a beneficial effect on cerebellar ataxia. The researchers propose to perform a pilot study investigating safety and efficacy of riluzole, an approved treatment for amyotrophic lateral sclerosis, as a symptomatic approach in patients with chronic cerebellar ataxia.

Randomized, double-blind, placebo-controlled study on the effects of MIN-102 on Biochemical, Imaging, neurophysiological, and clinical markers in patients with Friedreich's Ataxia

The investigator proposes an open label pilot study to investigate the safety and efficacy of gamma interferon (γIFN) in patients with Friedreich's Ataxia (FRDA). yIFN, an approved drug for treatment of granulomatous disease, has been shown to promote Frataxin expression in FRDA models in vitro and in vivo as well as in pilot human studies. Safety will monitored by clinical surveillance and biohumoral periodic assessment. Efficacy will be assessed by a combination of advanced neuroimaging techniques and established clinical indicators. The investigators intend to recruit over a 6 months period 12 subject with molecularly established FRDA. The protocol builds on a recently concluded observational study which established the pattern of clinical and neuroimaging abnormalities characterizing a cohort of patients with FA. The data already acquired through such study will constitute the T-6/-12 point, and together with T0 assessment, carried out at study entrance, will provide for each patient the exact appreciation of disease actual progression over a year time. Recruited patients will receive for 6 months yIFN at a final dose of 200 ug/three times a week. Patients will be evaluated clinically after 3 and 6 months (T3 and T6) of treatment and 6 months after treatment end (T+6) and by neuroimaging at T6 and T+6. The neuroimaging protocol, based on 3 Tesla scanner, consists in functional MRI, tractography. The clinical protocol consists on specific ataxia scales administration. Regular monitoring with for eventual adverse events will be provided. Frataxin levels in the peripheral blood mononuclear cells will also be evaluated at T0, T3, T6, T+6. Furthermore, the thickness of the cardiac ventricle and retinal nerve fibre layer (RNFL) thickness with optical coherence tomography (OCT) will be performed at T0, T6, T + 6.

This is an institutional cohort study. Patients confirmed with spinocerebellar ataxia (SCA) and taking or planning to take Nilotinib (Tasigna®) are enrolled in this study. The daily dose of Nilotinib is 150mg-300mg and the patients will be followed up at 1, 3, 6, and 12 months. Rating scale for Friedreich's ataxia I and II and Barthel index are used as general function and daily living performance index. Scale for assessment and rating of ataxia (SARA) are used as an objective measure of cerebellar function. Adverse drug reactions are evaluated based on CTCAE version 4.0.

This clinical trial investigates the effects of nicotinamide riboside (vitamin B3) on the disease course of patients with ataxia telangiectasia. Patients will be treated during four consecutive months with nicotinamide riboside (25mg/kg/day), followed by a washout period of two months. Main study parameters/endpoints: Ataxia, dysarthria, quality of life, laboratory parameters.

Traumatic Brain Injury (TBI)patients often suffer from loss of muscle strength in the hand and foot, decrease in coordination and high muscle tone (spasticity). In this study, investigators seek to compare how two different training programs can improve the coordination and symptoms of fatigue in individuals with movement deficits secondary to TBI. Using brain imaging, the study will also investigate changes in brain structure and activity associated with hand movement.

The aim of this study is to evaluate the efficacy and safety of C-Trelin OD Tablet 5mg(Taltirelin Hydrate) in Multicenter, randomized, double-blind, placebo-controlled clinical trial in patients with ataxia induced by spinocerebellar degeneration.

Neurodegenerative cerebellar ataxias represent a group of disabling disorders which 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 followed by an open-label phase, the investigators will evaluate whether a repetition of two-weeks' treatment with cerebellar anodal tDCS and spinal cathodal tDCS, after a three months interval, may further outlast clinical improvement in patients with neurodegenerative cerebellar ataxia and can modulate cerebello-motor connectivity, at short and long term.

The purpose of this study is to assess the Efficacy, Long Term Safety and Tolerability of RT001 in subjects with Friedreich's Ataxia