Friedreich's Ataxia

This is a dose-ranging, randomized, double-blind, placebo-controlled 12-week Phase 2a trial with an up to two week loading dose period. Eligible participants will be sequentially randomized 3:1 into three parallel groups, low-dose, mid-dose, and high-dose, to receive GV101 or placebo once daily for 12 weeks. The low-dose group will receive 200 mg from Weeks 2-12 after a 100 mg loading dose at Week 1; the mid-dose group will receive 300 mg from Weeks 3-12 after loading doses of 100 mg and 200 mg at Weeks 1 and 2, respectively; and the high dose group will receive 400 mg from Weeks 3-12 after loading doses of 200 mg and 300 mg at Weeks 1 and 2, respectively. Target enrollment is 16 participants per dose group. The primary efficacy endpoint at 12 weeks is percent change in blood FXN-M protein in each dose group compared with placebo, the key secondary endpoints are change in hs-cTnI and mFARS score in each dose group compared with placebo. Data for exploratory, safety, PK, and PD endpoints will also be collected and analyzed. Down-dosing will be allowed in groups dosed with \> 200 mg daily. Participants who complete the 12-week trial are eligible to continue into a 52-week OLE at 200 mg until the first participant from the second dose group completes the 12-week trial, at which time all OLE participants will be asked to increase their dose (4-week window) to 300 mg per day. When the first participant from the third dose group completes the 12-week trial, all current OLE participants will be asked to increase their dose (4-week window) to 400 mg per day. Participants in the second dose group will start the OLE with a 1 week loading dose of 200 mg per day and be asked to increase to 300 mg per day after the first week. Participants in the third dose group will start the OLE with a 1 week loading dose of 200 mg per day and will be asked to increase to 300 mg per day after the first week and to 400 mg per day after the second week. The OLE extends initially for 52 weeks from the last participant's entry; an additional OLE or expanded access is anticipated after this OLE to provide seamless treatment until program cessation or drug approval. Safety and efficacy assessment will continue throughout the dosing period. Down dosing related to tolerance is allowed during the OLE.

To evaluate the efficacy and safety of subcutaneous nomlabofusp in adult and pediatric subjects with Friedreich's ataxia

The purpose of this project is to characterize measures of cardiac performance and neuromuscular physiology in FA patients using novel techniques, including echocardiography and magnetic resonance imaging (MRI), metabolic exercise testing, and neurophysiological outcomes.

This is a clinical trial examining to impact of aerobic training plus omaveloxolone in FRDA. Thirty individuals with FRDA will be recruited; 20 individuals will be on omaveloxolone treatment whereas the other ten individuals will not. Individuals will undergo baseline assessment including cardiopulmonary exercise testing (CPET), mFARS, gait speed, Timed Up and Go (TUG), Fatigue Severity Scale (FSS), Fatigue Impact Scale (FIS), and 6-minute Walk Test (6MWT). Individuals will then perform 3-months of home aerobic training. Repeat assessments will be conducted at 3- and 6-months.

The purpose of this study is to confirm the treatment effects of vatiquinone on the key measures of FA disease progression.

Friedreich's ataxia (FRDA) is an autosomal recessive disease characterized by loss of coordination and cardiomyopathy. It is the most common form of inherited ataxia with an incidence in 1/50,000 in the Caucasian population. FRDA is associated with progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems, as well as diabetes and heart disease. The heart disease manifests as cardiomyopathy, and is responsible for approximately 60% of deaths from FRDA. This study is designed to characterize the cardiac manifestations of the disease using exercise, MRI, ECHO and serum parameters, in the context of the neurological disease. In addition, this study will demonstrate that corneal confocal microscopy (CCM) may also provide a biomarker for FRDA.

Prospective, exploratory, multicenter pilot study investigating the structural and functional connectome in patients with Friedreich's Ataxia (FRDA) using high-density electroencephalogram (HD-EEG). The aim is to identify neurophysiological biomarkers and analyze the relationship between cortical connectivity, cognitive functioning, and clinical severity, particularly in response to rehabilitation treatment.