View clinical trials related to Ataxia.
Filter by: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
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.
Functional bowel diseases are defined as chronic disorders of the gastrointestinal tract characterized by abdominal pain, bloating, tension and/or defecation abnormalities. Functional bowel diseases are studied under five headings: functional constipation, functional diarrhea, functional abdominal bloating / tightness and unclassifiable functional bowel disorders. Functional constipation is divided into three categories as normal transition-time constipation, slow transition-time constipation and defecation disorders. Defecation disorders occur due to improper use of pelvic floor muscles and anorectal muscles or anatomical abnormalities and account for 1/3 of all constipation. Defecation disorders characterized by excessive straining, incomplete defecation sensation, difficult and painful defecation are defined as narrowing of the fecal exit path due to involuntary pelvic floor contractions or posterior compartment pelvic organ prolapse. Non-pharmacological treatment in the treatment of functional constipation is considered as the first-line treatment and includes information about the nutrition, fiber-liquid consumption, physical activity and toilet training of patients. Biofeedback therapy is often recommended in patients with defecation disorders in the literature, and there are studies showing that it is superior to laxative use and placebo applications in the studies conducted. However, the fact that it is difficult and costly to achieve Biofeedback treatment, the method used allows movement at a certain angle and does not include the stretching method seems to be a disadvantage. Postisometric Relaxation technique is used in cases of pain, muscle spasm and movement limitations. People with defecation disorders experience spasms, pain and movement limitations in the pelvic floor muscles. For this reason, the investigators think that the Postisometric Relaxation technique may be effective in patients with defecation disorders, and it will also provide advantages due to the fact that the method is easily accessible, does not require extra materials and devices, and has a stretching effect. The aim of this study is to investigate the effect of Postisometric Relaxation technique on constipation severity, quality of life, anal pain, muscle function and sexual function in patients with defecation disorder.
This is an international, multi-center, randomized, prospective, double-blind, placebo-controlled, Phase 3 study, designed to assess the effect of EryDex (dexamethasone sodium phosphate [DSP] in autologous erythrocytes), administered by intravenous (IV) infusion once every 28 days, on neurological symptoms of patients with Ataxia Telangectasia (A-T).
The goal of this project is to evaluate how aerobic training impacts eyeblink conditioning as a proxy for cerebellar dependent motor learning. The newly developed smartphone application, iBlink, will be used to test participants at home in an effort to improve recruitment and increase the sample size of the study. The investigators hypothesize that aerobic training, but not balance training, will improve eyeblink conditioning in participants with spinocerebellar ataxias. The current study focuses on Aim 3 of this project.
Hereditary ataxias (HA) are a heterogeneous group of degenerative diseases of the cerebellum, brain stem and spinal cord. People who suffer from AH, among other symptoms, present deficiencies in the stability of the trunk, which leads to an alteration in postural control, with a strongly influential factor in the loss of balance and gait disorders. Improving the functionality of these physical aspects can help reduce the rate of falls, increase autonomy and quality of life for people with HA. Evidence suggests that rehabilitation strategies based on core stability exercises (CSE) are effective in improving balance and postural control in several neurological diseases, such as stroke. However, there is little evidence with people with HA. In a previous study carried out by researchers of this project, in which an EEC exercise program was piloted at home, low adherence to treatment was perceived due to the little follow-up that was given to the participants. Therefore, including telerehabilitation in these programs would increase follow-up and could influence adherence.
1. evaluate psychiatric disorders among patients with anorectal dyssynergia 2. evaluate the effect of delayed diagnosis of anorectal dyssynergia on the quality of the life
Cerebellar ataxia is a pathology linked to the lesion of the cerebellum or the afferent and/or efferent cerebellar pathways. The aetiology can be an acquired cerebral lesion, following a chemical poisoning or a genetic degenerative lesion (for example : Friedreich's ataxia, spinocerebellar ataxias, etc.). As reported by the latest estimate available, genetic degenerative cerebellar ataxias affect approximately 6,000 patients in France (Orpha.net). Symptoms suffered by ataxic patients are : problems and gait disorders along with difficulties in coordination resulting in ataxia, uncoordinated movements. These symptoms cause a decrease in the quality of life on patients with spinocerebellar ataxia. The symptoms improvement linked to the cerebellar syndrome is based on rehabilitation that can be supplemented by use of technical aids. Current scientific knowledge confirms that intensive rehabilitation by physiotherapy and occupational therapy in patients with degenerative ataxias improves cerebellar symptoms. Nevertheless, the choice rehabilitation technique stay at the appreciation of the therapist. From the observation, the investigators have designed an intensive multidisciplinary rehabilitation program, called PAMPERO, with partner patients member of two genetic degenerative ataxia patient organisations. This 5-weeks program has been used in clinic during 3 years on 28 patients. It appears to be the only one in France. The preliminary results show a positive effect on ataxia symptom. Nevertheless, the duration of the benefice over time and the effect on the quality of life stay unknown. However, the quality of life is mainly affected by the participation restriction due to the risk of falling. The most frequent complaint from partner patient is the diminution of the social interaction resulting of the incapacity to move without risk. The present protocol aimed at evaluating the Rehabilitation Program in collaboration with partner patient on the symptom intensity, activity and quality of life on genetic and degenerative ataxia. This PAMPERO program's effect will be assessed by comparing the difference of Intensity of symptom measured by to Scale for the Assessment and Rating of Ataxia (SARA) at inclusion and 3 months after the end of rehabilitation.
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 (FA) Friedreich's Ataxia is a neurodegenerative disease caused by a homozygous expansion of the GAA triplet repeats of the frataxin gene (FXN). FA usually begins in childhood or adolescence. It affects both boys and girls. At the neurophysiological level, FA is characterised by neuronal loss affecting the dorsal root ganglia, spinal cord and cerebellum. At present, daily exercise is the only way to combat the disease. There is no cure for Friedreich's ataxia. Clinically, FA mainly combines balance, movement coordination, articulation (dysarthria) with cardiac involvement and sometimes diabetes . After a few years of evolution, walking is no longer possible. Recent data ; also indicate disturbances in information processing and cognitive functioning. In short, FA involves adolescents who progressively lose walking, writing and speech for some; however, each patient progresses differently with respect to the disease, and this is the case with respect to motor and cognitive symptoms.