Active clinical trials for "Cerebellar Ataxia"

To produce hand's movement directed towards a target, the investigator must combine several sensory information, such as vision or proprioception. The posterior parietal cortex (PPC) is a region of the cortex involved in this multisensory integration. A lesion of the PPC cause a visuo-motor trouble called optic ataxia but these patients also have perceptual troubles. The aim of the study is to understand the different functions of the PPC and especially how the processes of spatial coding of the sensory information influences perception and motor planning. In this study, the investigator want to explore the sensory motor and the perceptual performance of patients with optic ataxia compared with healthy subjects, using 6 behavioral tests. Objectify the consequences of PPC impairment (visual-motor and perceptual consequences) on patients' quality of life and autonomy.

This is an open-label study evaluating the safety, tolerability, and PK following single-dose administration of omaveloxolone in pediatric patients with FA. The study will consist of 3 parts (Parts A, B, and C) based on age.

Friedreich's ataxia (FRDA) is an autosomal recessive disease characterized by loss of coordination and cardiomyopathy. It is the most common form of inherited ataxia with an incidence in 1/50,000 in the Caucasian population. FRDA is associated with progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems, as well as diabetes and heart disease. The heart disease manifests as cardiomyopathy, and is responsible for approximately 60% of deaths from FRDA. This study is designed to characterize the cardiac manifestations of the disease using exercise, MRI, ECHO and serum parameters, in the context of the neurological disease. In addition, this study will demonstrate that corneal confocal microscopy (CCM) may also provide a biomarker for FRDA.

Ataxia Telangiectasia (A-T) is an inherited disorder characterised by cerebellar neurodegeneration, immunodeficiency and respiratory disease. People with A-T have abnormal DNA repair and consequently have an increased risk of cancer. Despite this, current guidelines for management of children and young people with A-T do not include cancer surveillance. Improvements in MRI technology have allowed whole-body MRI (WB-MRI) scanning with relatively short acquisition times. Currently, WB-MRI protocols are used for diagnosing and monitoring some primary and secondary cancers, including cancer surveillance in people with the Li-Fraumeni syndrome, which is another genetic cancer predisposition syndrome. Therefore, the research team believe that whole-body MRI provides a safe method for cancer surveillance in children and young people with A-T. However, the investigators do not know whether cancer surveillance in children and young people with A-T using whole-body MRI is feasible and desirable. The research team proposes a feasibility study of MRI-based cancer surveillance with qualitative evaluation of participant experience with the primary aim to establish: feasibility of whole-body MRI for cancer surveillance in children and young people with A-T views of, and psychological impact on, participants and families / carers participating in whole-body MRI for cancer surveillance. feasibility of conducting a formal screening trial in terms of statistical design, sample size, screening interval, comparator arms and international collaboration Completion of this study will provide us with evidence of technical feasibility, very strong evidence of child / family views, a viable formal screening trial design and an engaged international research community, allowing us to proceed to a formal trial establishing the efficacy of a cancer surveillance programme for children and young people with A-T.

Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCA and this study will focus on types 1, 2,3, and 6 (SCA 1, SCA 2, SCA 3 , also known as Machado-Joseph disease and SCA 6). The diseases are rare, slowly progressive, cause increasingly severe neurological difficulties and are variable across and within genotypes. The purpose of this research study is to bring together a group of experts in the field of SCA for the purpose of learning more about the disease. The research questions are: How does your disease progress over time? What are the best ways to measure the progression? Do some genes, other than the gene that is abnormal in your disease, have any effect on the way the disease behaves? This is a nationwide study and we expect that 800 patients will participate all over the USA. The participants will be in the study for an indeterminate period of time. Study visits will be done every 6 or 12 months depending on the participating site.

This project is a global, multicenter, prospective, observational natural history study that can be used to understand the disease progression and support the development of safe and effective drugs and biological products for Friedreich ataxia.

The aim of this study is to determine the clinical spectrum and natural progression of Spastic Ataxias (SPAX) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the genetic etiology and molecular mechanisms of these diseases.

The aim of the research is to improve motor function in people with cerebellar ataxia by using neuroimaging methods and mental imagery to "exercise" motor networks in the brain. The relevance of this research to public health is that results have the potential to reduce motor deficits associated with cerebellar atrophy, thereby enhancing the quality of life and promoting independence.

Aim is to investigate repeatability and stability of four Neurological-related Bulbicam tests in patients suffering Parkinson (PD),Ataxia (AT) and matched healthy control (HC). Study population The study consists of the patients suffering from PD or AT and HV of both genders above 18 years of age without any eye- or neurological disorder. Bulbicam will be used in the study and five tests will be performed The study will be performed as a controlled, open and non-randomized, stratified observational single center. The stratification factors will be pathology (PD&AT) and internal classifications. ed. The main variables will be the variables recorded at the four Bulbicam tests and the standard neuro-ophthalmological variables included for PD and AT Participants, who fulfil the inclusion criteria; do not meet any of the exclusion criteria and willing to give informed consent to participate will receive an appointment for starting the study. During the first day of the study, the included patients will undergo a neuro-ophthalmological examination by a neurologist. Additionally, Bulbicam examination will be performed twice with a rest period of one hour between each registration. The healthy controls will only undergo a standard examination and twice BulbiCam examination. The controls will only participate one day. The patients will participate two more days with two Bulbicam examinations per day. Sample size: Sixteen PD-patients ,16 AT-patients and 32 HCs will be included in the study.

This multicenter natural history study aims to expand the network of clinical research centers in FA, and to provide a framework for facilitating therapeutic interventions. In addition, this study will lead to the development of valid yet sensitive clinical measures crucial to outcome assessment of patients with Friedreich's Ataxia. This study will support genetic modifier studies, biomarker studies, and frataxin protein level assessments by building a sample repository.