View clinical trials related to Ataxia.
Filter by:The primary objective of the study is to evaluate the efficacy (using the modified Friedreich Ataxia Rating Scale [mFARS]) and safety of vatiquinone in participants with Friedreich ataxia (FA).
To evaluate the safety and tolerability of multiple ascending doses of CTI-1601 in participants with Friedreich's ataxia
Study design: Parallel group, placebo-controlled, dose-escalation each 2 months for 12 months. Dose based on percent (%) of calculated caloric intake. Thirty participants will be randomised in blocks on a 1:1:1 ratio into one of three groups stratified by age (< 5 years, 5-10 years, > 10 years of age). Group 1: 10%, 20%, 35%, 35%, 35% (no placebo). Group 2: placebo, 10%, 20%, 35%, 35% Group 3: placebo, placebo, 10%, 20%, 35%. Primary endpoint: The percent cell death induced by glucose deprivation in cell culture. Secondary endpoints include: Scales for assessment and rating of ataxia, International Cooperative Ataxia Rating Scale, Ataxia Telangiectasia Neurological Examination Scale Toolkit, speech and language assessment, EyeSeeCam assessment, MRI lung imaging, Lung function, Upper respiratory microbiome, Faecal microbiome, Survival and inflammatory phenotype of airway epithelial cells, macrophages and in serum, Metabolomic biomarker discovery in serum and measurement of neuroflament light chain.
There are no clinically established treatments which have been proven to delay the disease progression in spinocerebellar ataxia (SCA) 3. Most available treatments are only for symptom alleviation, and thus the majority of patients will eventually progress to needing and wheel chair and eventually bedridden. As trehalose appear to be potentially promising treatment in SCA, the investigators aim to conduct this study using oral trehalose in our genetically confirmed SCA 3 patients.
One of the main objectives of this project is to validate potential biological, clinical and/or imaging biomarkers in SCA patients through a multimodal assessment, for future ASOs trials.
A drug repositioning effort provided evidence supporting the possible use of Etravirine, a drug approved for the treatment of HIV infections in patients starting from 2 years of age, as a treatment for FA. We found that Etravirine is able to increase Frataxin protein both in vitro - in cells derived from FA patients - and in vivo - in the heart and skeletal muscle of Frataxin-deficient YG8 mice. Because of these findings, and since Etravirine displays a generally favorable safety profile, we plan to launch an open-label, phase 2 clinical trial aimed at assessing the safety and efficacy of Etravirine in FA patients. We aim at recruiting 30 FA patients. 15 will be treated with Etravirine for 4 months at 200 mcg/day and 15 will be treated with Etravirine for 4 months at 400 mg/day. Efficacy primary endpoint will be represented changes in peak VO2 as measured by incremental cycle ergometer exercise test. Secondary endpoints will include maximal workload, SARA score, cardiac measures, Frataxin protein levels in peripheral blood mononuclear cells and molecular analysis of Frataxin mRNA translation efficiency. Complete sets of data will be collected 4 months before the start of the treatment (T -4), at the start (T0), after 2 months (T2), at the end of the treatment (T4) and 4 months after the termination of the treatment (T8).
To test the variability of specific ribonucleic acid (RNA) and proteins as well as frataxin levels in samples of blood and buccal cells taken directly from patients with Friedreich's ataxia (FRDA) in order to confirm potential new biomarkers of disease in patients with FRDA.
This study was designed as a single-blind, randomized and cross-over study to investigate and compare the acute effects of local vibration (LV) and whole-body vibration (WBV) applications on postural control in adult patients with ataxia. The study will be included in patients aged 18-50 years, including ataxia diagnosed by the neurologist and able to walk independently. Patients with pregnancy status, epilepsy, spasticity, implant / endoprosthesis / pacemaker, benign paroxysmal positional vertigo, history of fracture in the last 6 months and other neurological diseases other than ataxia will not be included in the study. Between the applications, a washout period of one week will be given to each patient to apply both local and whole body vibrations. The order of application will be decided by the coin toss randomization method. Descriptive evaluations of the patients will be done with Mini-BESTest and Trunk Impairment Scale. Stability limits and postural sways (Bertec Balance Check ScreenerTM), gait time - distance characteristics (GAITRite), functional mobility skills (Timed Up and Go Test), and static balances (One Leg Stance Test) before, 1 minute after the application and 60 minutes after the application.
To evaluate the safety and tolerability of single ascending doses of CTI-1601 in participants with Friedreich's ataxia
Neurodegenerative cerebellar ataxias represent a group of disabling disorders which currently lack effective therapies. Cerebellar transcranial direct current stimulation (tDCS) is a non-invasive technique, which has been demonstrated to modulate cerebellar excitability and improve symptoms in patients with cerebellar ataxias. In this randomized, double-blind, sham-controlled study followed by an open-label phase, the investigators will evaluate whether a repetition of two-weeks' treatment with cerebellar anodal tDCS and spinal cathodal tDCS, after a three months interval, may further outlast clinical improvement in patients with neurodegenerative cerebellar ataxia and can modulate cerebello-motor connectivity, at short and long term.