View clinical trials related to Ataxia.
Filter by:Objectives: The objective of study was to evaluate the safety and the efficacy of EryDex (Dexamethasone sodium phosphate encapsulated in autologous erythrocytes, using the EryDex System - EDS) at two dose levels (low dose and high dose DSP/infusion), compared to placebo, on Neurological Symptoms in Patients With Ataxia Telangiectasia. Initial Double-Blind Treatment Period (0 to 6 Months) Primary Efficacy Objective: • Evaluate the effect of EryDex at two dose levels (low dose and high dose DSP/infusion), compared to placebo, on central nervous system (CNS) symptoms measured by the change in the Modified International Cooperative Ataxia Rating Scale (mICARS) from baseline to Month 6 (Visit 9) in patients with ataxia telangiectasia (A-T). Secondary Efficacy Objectives: - Evaluate the effect of EryDex, compared to placebo, on the Clinical Global Impression of Change (CGI-C) in patients with A-T from baseline to Month 6 (Visit 9). - Evaluate the effect of EryDex, compared to placebo, on measures of Clinical Global Impression of Severity (CGI-S; structured) in patients with A-T from baseline to Month 6 (Visit 9) - Evaluate the effect of EryDex, compared to placebo, on measures of Adaptive behavior measures in patients with A-T by the Vineland Adaptive Behavior Scales (VABS) from baseline to Month 6 (Visit 9). Safety Objectives: • Evaluate the safety and tolerability of two non-overlapping doses of EryDex, compared to placebo, in patients with A-T over the 12-month double-blind study duration. Extension Treatment Period (6-12 Months): Primary Objective: • Evaluate the efficacy of EryDex at two dose levels (low dose and high dose DSP/infusion) compared to placebo, in treating CNS symptoms in A-T patients during longer-term treatment (up to 12 months), as measured by the mICARS. Secondary Objectives: - Evaluate the longer-term (up to 12 months) safety and tolerability of EryDex in A-T patients. - Compare the effects of EryDex on the CGI-C and CGI-S (structured), VABS, and QoL using the EQ-5D-5L scale.
Background: Spinocerebellar ataxia type 7 (SCA7) is disease in which people have problems with coordination, balance, speech and vision. It is caused by a change in the ATXN7 gene. A mutation in this ATXN7 gene causes changes in eye cells, which can lead to vision loss. There is no cure for SCA7 but researchers are looking for possible treatments. Researchers need more information about SCA7. They want to collect vision and neurology related data from people with SCA7. They want to learn how and what changes in the eye and brain when the ATXN7 gene isn t working properly. Objective: To learn more about SCA7 and its progression. Eligibility: People ages 12 and older with SCA7. Design: Participants will be screened with medical history and genetic testing from a previous National Eye Institute study or their personal physician. Participants will have at least 7 visits over 5 years. They will have 2 visits during the first week of the study. Then they will be asked to come back every year for the next 5 years. Each visit will last several days and will include: - Medical and eye history - Several eye tests: some will include dilating the pupil with eye drops and taking photos or scans of the eyes. - Electroretinography (ERG): Participants will sit in the dark with their eyes patched for 30 minutes. After this, the patches will be removed and contact lenses put into the eyes. They will watch flashing lights and information will be recorded. - Neurological exams: Sensation, strength, coordination, reflexes, attention, memory, language, and other cognitive functions will be tested. - Brain MRI: They will lie in a machine that takes pictures of the brain. - Blood and urine tests - Optional skin biopsy: About 3 millimeters of skin will be removed for more research testing; this is half the size of a pencil eraser.
This study aims to investigate the link between the Ataxia Telangiectasia Mutated (ATM) gene and metformin response. This link has been identified from large studies of the human genome, and this study aims to confirm this link in a clinical study. The ATM gene is involved in DNA repair - if a person inherits a "faulty" copy of this gene from both their parents, they have a genetic condition called Ataxia-telangiectasia (A-T). A-T is associated with, among other things, a resistance to insulin, which causes fatty liver and diabetes. This study will recruit people who have A-T, but have not developed diabetes, and compare this group to "healthy" controls, i.e. people who do not have A-T or diabetes. The study will compare how the groups respond to two drugs used to treat diabetes (metformin and pioglitazone), with the intention that this will guide the management of diabetes in A-T. This is an, open label unblinded study recruiting 15 people with A-T and 15 age and gender matched controls. Each participant will have three study visits to the Clinical Research Centre at Ninewells hospital in Dundee - one at baseline, a second after 8 weeks of metformin and the final visit after eight weeks of pioglitazone. During each visit we will carry out a number of investigations to study the insulin resistance of A-T and how it responds to metformin and pioglitazone.
This study is an exploratory open-label clinical trial of Rosuvastatin in patients with Friedreich ataxia (FRDA). This is an outpatient trial with the goal of enrolling 10 evaluable adults with genetically confirmed FRDA who are between the ages of 18-65. Subjects will receive 10mg of oral Rosuvastatin daily for three months.
The key goals of SPORTAX-NHS is to compare the phenotype of multiple system atrophy of cerebellar type (MSA-C) and sporadic adult onset ataxia of unknown aetiology (SAOA) and to determine the rate of disease progression in both groups including determination of the factors that predict the development of MSA-C vs. SAOA, and at which time after onset of ataxia, a reliable distinction between both disorders is possible. The planned study will also allow to collect blood samples and other biomaterials from patients with sporadic ataxia, which will be useful for future genetic and biomarker studies.
This 24-week study will test the safety and effectiveness of synthetically produced (+) Epicatechin in treating patients who have Friedreich's Ataxia, a neurological disorder.
The purpose of this study is to examine the safety and efficacy of Allopregnanolone as a possible treatment for symptoms of Fragile X-associated Tremor/Ataxia Syndrome (FXTAS).
With exposure to high altitude some individuals will develop acute mountain sickness (AMS). Current evaluation of AMS can make it difficult to rule out other possible conditions. Evaluation of ataxia, as measured by the performance of a coordinated task, can aide in the correct diagnosis of AMS. The investigators have developed novel finger-tapping tasks on a mobile device to assess both reaction time and accuracy. The proposed research will evaluate the utility of this tool in assessing human acclimatization to hypoxia.
The purpose of this phase 3 multi-center, open-label extension study is to evaluate the long-term safety of ACTIMMUNE® (interferon-γ 1b) in participants with Friedreich's Ataxia.
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.