View clinical trials related to Spinocerebellar Ataxias.
Filter by:To focuses on the challenges faced by individuals with spinocerebellar ataxia (SCA), highlighting the major clinical sign of ataxia that affects their stability and ability to perform daily activities, thereby impacting their quality of life. It outlines the concept of neural plasticity, which is the brain's ability to adapt through changes in excitability, and notes that these changes are more enduring in the central nervous system (CNS) than in the peripheral nervous system (PNS). This adaptability, crucial for memory and motor learning, is compromised in SCA patients due to impaired brain areas and pathways. The summary further delves into motor learning, distinguishing between explicit and implicit learning, and points out that SCA patients exhibit deficiencies in procedural learning and cerebellar function. It also introduces the concept of priming as a preparatory mechanism that can enhance the effectiveness of physical therapy by modifying subsequent responses to stimuli. The document suggests that cycling, as an aerobic exercise, could prime the brain for improved blood flow and oxygenation, thereby supporting synaptic plasticity and the release of beneficial neurotrophic factors. Finally, the project aims to deepen the understanding of motor performance and learning mechanisms in SCA patients and apply these insights to clinical rehabilitation strategies.
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.
Spinocerebellar ataxia (SCA) is a group of inherited brain disorders. SCA often result in poor limb coordination. This study aims to discover the effects of repeated transcranial magnetic stimulation (rTMS) on balance & gait in SCA. The hypothesis of this study is that rTMS might improve SCA limb functional performance.
The goal of this first-in-human clinical trial is to assess the safety and tolerability of four doses of a new study drug called VO659 in people with genetic disorders called spinocerebellar ataxia type 1, type 3 or Huntington's disease. Another aim is to determine the concentrations of the study drug in the cerebral spinal fluid and blood after single and multiple doses. Study drug will be administered by lumbar intrathecal bolus injections.
48 participants (24 women and 24 men) with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) will participate in 2 phases : control phase (12-week usual care) and intervention phase (12-week home-based rehabilitation program). The participants will be evaluated at baseline, week 12 (end of control phase) and week 24 (end of intervention phase) to quantify the effects of an individualized home-based rehabilitation program. Participants will also participate on a focus group at the end of the program to evaluate the acceptability of the program and the perceived changes.
This is a longitudinal, triple-blind, randomized-controlled, prospective observational study assessing patients with cerebellar ataxia, including spinocerebellar ataxia type 3 (SCA3) and multiple system atrophy-cerebellar type (MSA-C), to examine the efficacy, safety, and tolerability of transcranial alternating current stimulation (tACS) for up to 3 months.
Inherited movement disorders are rare conditions, whose cumulative prevalence are in the order of 5-10/100,000 inhabitants, in most cases progressive and can lead to a significant loss of autonomy after one or more decades of evolution. They include spinocerebellar ataxias and hyperkinetic disorders (dystonias, choreas, tremor, parkinsonism and myoclonus with variable combination of those, or more complex alteration of movements). The existence of the National Reference Centre (CMR) for Rare Diseases (CMR Neurogenetics, devoted to ataxias and spastic paraparesis, dystonia and rare movement disorders and CMR Huntington, devoted to Huntington Disease) has allowed a more integrated vision of these diseases. This is illustrated, in the same family, by the occurrence of different clinical expressions of spinocerebellar ataxias and hyperkinetic disorders that share the same genetic background. Conversely, different causal mutations within the same gene may have very different ages at onset and a wide range of clinical expression, and the spectrum of new phenotypes linked to a single gene is still expanding . Many ataxia and dystonia genes are involved in similar pathways. There are numerous arguments supporting a share pathogenesis including synaptic transmission and neurodevelopment . BIOMOV project aims to : 1. establish the clinical spectrum and natural history of these diseases, 2. understand the role of genetic and familial factors on the phenotype, 3. elucidate the molecular basis of these disorders and evaluate diagnostic strategies involving molecular tools for clinical and genetic management, 4. develop multimodal biomarkers both for physiopathological studies and for accurate measures of disease progression, 5. develop trial ready cohorts of well characterized genetic patients, 6. test new therapies either symptomatic or based on pathophysiological mechanisms.
This research investigates how cognitive-affective aspects evolve during the course of SCA3/MJD. Due to COVID-19 pandemics, this study protocol was adapted for online-only consultations. Evaluations happening after March 2020 have been done by videocall with patients, and no neurological evaluation was thus performed on these patients. A scale on Activities of Daily Living was added to the online protocol to replace SARA, SCAFI and CCFS scales.
The purpose of this study is to create a repository for cerebellar ataxia and nucleotide repeat diseases in order to fully investigate the genetic and phenotypic presentations of both.
Spinocerebellar ataxia type 10 (SCA10) is a hereditary ataxia whose ancestral mutation occurred in East Asia. The mutation is likely to have migrated during peopling of American continents from East Asia. We found a specific rare DNA variation associated with SCA10. We test whether this variation played a key role in the birth and subsequent spreading of SCA10 mutation.