View clinical trials related to Ataxia.
Filter by:Cerebellar ataxias are a group of rare neurological disorders that are clinically and genetically heterogeneous, with several hundred genes and diseases known to date. Over the last decade, their diagnosis has been revolutionised by the development of high-throughput sequencing technologies such as exome/genome sequencing (ES/GS), making it possible to obtain a molecular diagnosis in a growing number of patients. However, almost 40% of patients remain without a molecular diagnosis, raising questions about the limitations of sequencing technologies based on a technique known as short-read. One limitation of short-read is its poor ability to detect repeated motif expansions, a frequent mechanism in neurology and associated with more than thirty neurogenetic diseases. Although tools for analysing ES/GS data have gradually been developed in response to this problem, their effectiveness and reliability remain moderate. To date, the gold standard for detecting these expansions remains targeted approaches such as PCR and Southern blot, which are long, tedious and costly processes that require an independent search for each expansion, forcing clinicians to select expansions and limiting diagnostic yield. In addition, there are diseases associated with expansions so rare that no French laboratory offers a diagnostic test. The recent development of long fragment genome sequencing (long-read - lrGS) could provide a solution to all these problems. These technologies are based on a sequencing process during which DNA is preserved in the form of large molecules of several tens of thousands of bases. Regions of the genome containing expansions can therefore be studied directly in their entirety, avoiding the difficulties of reconstruction from small fragments, which is the case in short-read sequencing. In addition, lrGS can characterize the size of repeated motifs and thus detect any causal expansion in an individual in a single analysis. A number of recently published studies, particularly in neurology, have demonstrated the ability of lrGS to detect pathologies with known expansions (SCA36, C9ORF72), but also to discover new ones and thus explain the molecular basis of rare pathologies (SCA27b, NOTCH2NLC). Although these sequencing technologies have been around for a number of years, access is still restricted to research work and is limited by their higher cost. Their value as a second-line diagnostic tool has yet to be demonstrated. The investigators propose to evaluate the feasibility and diagnostic yield of Oxford Nanopore lrGS in duo or trio (patients + 1 or 2 first-degree relatives) in patients with cerebellar ataxia without molecular diagnosis after short-read GS. This will be the first study to transfer this lrGS technique to the second line, in real-life conditions, for the causal genetic diagnosis of cerebellar ataxia.
The purpose of this study is to determine the effects of high intensity stepping training on gait outcome measures in patients with cerebellar ataxia, to identify the correlations between gait outcome measures and measures of ataxia and balance in individuals with cerebellar ataxia and to determine differences in response to high intensity stepping training based off of diagnosis.
This is an open-label extension (OLE) study designed to evaluate the long-term safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD), and clinical effects of subcutaneous (SC) administration of CTI-1601, also known as nomlabofusp, in subjects with Friedreich's ataxia (FRDA). The objectives of this OLE study are: - To evaluate the safety of long-term subcutaneous (SC) administration of CTI-1601 in subjects with FRDA - To evaluate the PK of long-term subcutaneous (SC) administration of CTI-1601 in subjects with FRDA - To evaluate the effect of long-term subcutaneous (SC) administration of CTI-1601 in subjects with FRDA on: - Tissue FXN concentrations - Clinical evaluations of FRDA - Gene Expression and select lipids
Ataxia refers to a group of neurological disorders characterized by impaired coordination and balance due to dysfunction in the cerebellum or its connections. Traditional therapeutic approaches for ataxia have shown limited efficacy, prompting researchers to explore alternative interventions. Non-invasive brain stimulation (NIBS) techniques, such as transcranial magnetic stimulation (TMS), transcranial direct current stimulation (tDCS), transcranial alternating current stimulation (tACS), and intermittent theta burst stimulation (iTBS), have emerged as potential therapeutic options. The aim of this study is to investigate the combined effect of tACS-iTBS on balance functions in ataxia disorders.
The purpose of the clinical trial is to study the therapeutic efficacy and safety of Stemchymal® infusions for polyglutamine spinocerebellar ataxia treatment by a randomized, double-blind, placebo-controlled study design. Eligible subjects will receive Stemchymal® through intravenous infusion.
Abdominal bloating and distension (ABD) are the most commonly gastrointestinal symptoms reported by patients with various functional gut disorders such as functional dyspepsia, irritable bowel syndrome and it is frequently associated with constipation. The pathophysiology of ABD is complex, often multifactorial and poorly understood. The reseach was hypothesised that short-term self-manual approaches and exercise for core muscles would have a positive effect on the symptoms of ABD.
Glutamic acid decarboxylase (GAD) is an enzyme whose function in the body is to decarboxylate glutamate to GABA. GAD65 antibodies (GAD65Ab) have been associated with type-1 diabetes (80% of new-onset patients) and various neurological conditions, mainly stiff-person syndrome (SPS/PERM), cerebellar ataxia (CA), limbic encephalitis (LE) and temporal lobe epilepsy. These syndromes all seem to result from a reduced transmission of GABA. These neurological conditions are rare and can cause symptoms like confusion, memory loss, muscle stiffness, muscle spasms, behavioural disorders, and pharmacoresistant epilepsy. When finding high levels of GAD65-Ab in the serum, a cerebrospinal fluid (CSF) sample should be taken to look for oligoclonal IgG bands and intrathecal GAD-Ab production to prove an auto-immune cause for the various neurological symptoms.
Study design: Single arm open-label clinical trial in ataxia-telangiectasia to test the effects of nicotinamide riboside on ataxia scales, immune function, and neurofilament light chain. Study population: 6-10 patients with Ataxia-Telangiectasia. Dose: Nicotinamide riboside 25 mg/kg/day in 3 equal divided doses. Primary endpoint: Scales for assessment and rating of ataxia (SARA), and International Cooperative Ataxia Rating Scale (ICARS). Improvement of at least ½ standard deviation in key clinical scales which includes either; a) significant improvement in total combined scores from the SARA and ICARS scales, and /or b) significant improvements any aspects of the SARA and ICARS scales individually, especially pertaining to; Postural and gait improvements, Improved syllable speed and articulation, Improved fine motor skills. Secondary endpoints: Serum analysis of neurofilament light chain (Nfl), Type 1 Interferon (INFs) epigenetic signature
The main goal of this pragmatic clinical trial is to investigate the effects of trans-spinal tDCS in individuals with spinocerebellar ataxia (SCA) over some parameters of gait and postural control in real-world conditions, reflecting daily clinical practice. The main questions it aims to answer are: - If an extended number of tDCS sessions, beyond the typical 5 to 10 sessions described in scientific literature, applied concomitantly with exercises with progressive challenges, to yield positive outcomes over some parameters of gait and postural control in individuals with SCA and if there is retention of possible benefits one month later the end of this protocol. - If there is specific characteristics (including balance, gait, mobility, severity of ataxia, DNA test characteristics and non-ataxic signs) in individuals with SCA that can predict their improvement in postural control and gait following the 20 tDCS sessions. - Participants will receive 20 tDCS sessions concomitantly with exercises for gait and postural control with progressive challenges. - Postural control and gait of the participants will be assessed in two big sessions before (#assessment 1) and after the 20 sessions (#assessment 5) and 3 small sessions after every 5 sessions (#assessments 2, 3 and 4). Also, as a follow-up, they will be assessed a month after the end of the intervention (#assessment 6).
Spastic ataxias are a group of diseases causing symptoms such as walking difficulties and balance impairments that lead to a high risk of falls. No pharmacological treatments exist to treat these diseases. Unfortunately, little effort is made to develop non-pharmacological treatments specific to spastic ataxias despite the detrimental impact of the disease on several aspects of an individual's life and the high cost of falls for society each year. The three objectives of this project are: 1) to determine the effect of a 12-week rehabilitation program on disease severity as compared with usual care for individuals with spastic ataxias; 2) to identify which factors can help (or not) the implementation of the program in the clinical settings ("reel world"); and 3) to explore the cost-benefits of IMPACT [rehabIlitation prograM for sPAstiC aTaxias]. The team has developed the program to specifically target symptoms present in these patients and was previously pilot-tested. Based on the results obtained in this pilot project, positive effects are expected concerning the disease severity of participants. The investigators want, with this project, provide to health care professionals an option to offer better-suited services to people living with spastic ataxia worldwide.