Phase IA Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia
Friedreich AtaxiaCardiomyopathies2 moreThe purpose of this study is to test the safety and preliminary efficacy of AAVrh.10hFXN to treat the cardiomyopathy associated with Friedreich's ataxia (FA). AAVrh.10hFXN is a serotype rh.10 adeno-associated virus gene transfer vector coding for Frataxin (FXN). The drug is administered intravenously. This is a phase 1, open label, dose escalation study with a total of 10 participants.
N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)
Ataxia TelangiectasiaLouis Bar SyndromeThis is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of Ataxia-Telangiectasia (A-T). There are two phases to this study: the Parent Study, and the Extension Phase. The Parent Study evaluates the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the symptomatic treatment of A-T. The Extension Phase evaluates the long-term safety and efficacy of IB1001 for the neuroprotective, disease-modifying treatment of A-T.
A Safety and Pharmacokinetics Trial of VO659 in SCA1, SCA3 and HD
Spinocerebellar Ataxia Type 1Spinocerebellar Ataxia Type 31 moreThe 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.
rTMS Improves Functions in Spinocerebellar Ataxia
Transcranial Magnetic StimulationSpinocerebellar AtaxiasSpinocerebellar 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 Impact of Respiratory Muscle Training and Patient Education on Chronic Constipation Outcomes...
ConstipationConstipation - Functional1 moreThe primary aim of this study will be to determine if a respiratory muscle training program that includes both inspiratory muscle training (IMT) and expiratory muscle training (EMT), targeted at improving respiratory muscle performance-based measures combined with patient education about breathing on the toilet will improve patient satisfaction scores in individuals with chronic constipation (CC).
Efficacy of Virtual Reality on Balance in Children With Ataxic Cerebral Palsy Randomized Controlled...
Ataxic Cerebral PalsyAtaxic CP is one type of cerebral palsy. children with ataxic cerebral palsy have trouble with balance and coordination. They may walk with their legs farther apart than other kids and have a hard time with activities that use small hand movements, like writing. Some also have trouble with depth perception This means being able to accurately judge how close or far away something is
Efficacy of Adding Lower Extremity Weights on Balance in Children With Ataxic Cerebral Palsy
Ataxic Cerebral PalsyAtaxic CP is one type of cerebral palsy. children with ataxic cerebral palsy have trouble with balance and coordination. They may walk with their legs farther apart than other kids and have a hard time with activities that use small hand movements, like writing. Some also have trouble with depth perception This means being able to accurately judge how close or far away something is
Investigation of the Effects of Local Vibration Applied to Different Regions and Spinal Stabilization...
Multiple SclerosisAtaxiaThe aim of this study is to investigate the effects of local vibration application applied to different regions on postural control in addition to spinal stabilization training in ataxic multiple sclerosis (MS) patients. The study was planned as a single-blind, randomized controlled trial. The patients included in the study will be divided into 3 groups by the closed-envelope randomization method. Each treatment will be 8 weeks, 3 days a week. The control group will be given 40 minutes of lumbar spinal stabilization exercises. Paraspinal vibration group; In addition to 40 minutes of lumbar spinal stabilization exercises, LV will be applied to the paraspinal muscles for 10 minutes. LV application will be applied to the cervical paraspinal muscles for 5 minutes and to the lumbar paraspinal muscles for 5 minutes, bilaterally, sequentially. Gastrosoleus vibration group; In addition to 40 minutes of lumbar spinal stabilization exercises, LV will be applied to the gastrosoleus muscle complex for 10 minutes. LV application will be applied bilaterally, sequentially (5 minutes on the right and left). Assessments will be made by a blind assessor. In assessments; demographic information, Expanded Disability Status Scale (EDSS) /Extended Disability Status Scale (disease stage), International Cooperative Ataxia Rating Scale (ataxia severity), Berg Balance Scale (performance-based balance), Trunk Impairment Scale (trunk control), Neurocom Balance Master Static Posturography (limits of stability and postural sway), OptoGait (gait analysis), lumbopelvic muscle endurance tests will be used.
A Study to Assess the Safety and Efficacy of Vatiquinone in Participants With Friedreich Ataxia...
Friedreich AtaxiaThe primary objective of this study is to assess the long-term safety of vatiquinone in participants with Friedreich ataxia (FA) previously exposed to vatiquinone in Study PTC743-NEU-003-FA (NCT04577352) or Study PTC743-NEU-005-FA.
NAD+ and Exercise in FA
Friedreich Ataxia 1Randomized, placebo-controlled trial with a 2x2 factorial design testing the effects of an NAD+ precursor (NR) and exercise on VO2max and Si in Friedreich's Ataxia (FA). The primary objective of this research is to measure the effect of combination administration (NR + exercise) on aerobic capacity (VO2max) in FA. A key secondary objective is to measure the effect of combination administration (NR + exercise) on glucose homeostasis (Si) in FA.