Clinical Research Directory

A Study to Learn More About Friedrich's Ataxia in People Living in the Gulf Cooperation Council (GCC) Region of the World

In this study, researchers will learn more about a disease called Friedrich's Ataxia, also known as FA. This is known as an "observational" study, which collects health information about study participants without changing their medical care. In certain parts of the world, people with FA may not know about the disease or have access to genetic testing to get a diagnosis. To help more people get medical care for FA across the world, researchers need to learn more about any cases that do happen. Participants for this study will come from West Asia, in countries covered by the "Gulf Cooperation Council", also known as the GCC. This will include study sites in Saudi Arabia, Kuwait, Qatar, Oman, Bahrain, and the United Arab Emirates (UAE). The main goal of this study is to learn more about the natural history and participant experience of FA in people living in the GCC region of the world. This will include learning about their experiences, symptoms, and how the disease affects their daily lives over time. To do this, researchers will collect information from participants' medical records and regular healthcare visits. Researchers hope that what they learn from this study will help them understand more about FA in this part of the world so that they can better understand people need for their FA. The main question researchers want to answer in this study is: • What are the experiences of people with FA, and how does the disease affect people over time in the GCC region of the world? Researchers will also learn more about: * About how many cases of FA are happening in this part of the world? * How different do FA cases look like in this part of the world? * What information in the participants' medical records helps show the difference between FA and other kinds of ataxia? This study will be done as follows: * Participants will join the study after signing an informed consent form, also known as an ICF. * During the study, health information from the participants' regular visits to their doctor will be collected about every 6 months. * Information about participants' FA symptoms, medical history, genetic test results, and daily functioning will be collected. * For participants already receiving treatment for FA, information from before they started treatment may also be collected from medical records. * During regular visits, researchers will also collect information about participants' FA symptoms and their ability to do their daily living activities. * Each participant will be in the study for up to about 2 years.

GV101 for Friedreich's Ataxia (FA) Treatment

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.

A Study to Evaluate the Efficacy and Safety of Subcutaneous Nomlabofusp in Subjects With Friedreich's Ataxia

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

Biomarkers in 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.

Cardiac Output and Fatigue in Friedreich's Ataxia

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.

Long-Term Efficacy Study of Vatiquinone for the Treatment of Friedreich's Ataxia (FA)

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

Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)

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.

GABA and GSH in FRDA

The goal of this study is to obtain gamma-aminobutyric acid (GABA) and glutathione (GSH) assessment derived from magnetic resonance spectroscopy (MRS), to be used as a potential biomarker in patients with Friedreich Ataxia (FRDA) prior to (Aim 1), and after taking Omaveloxolone (Aim 2). Analysis will consist of: A. Comparison of values in controls with those of FRDA patients (Aim 1) B. Longitudinal comparison of values in FRDA patients repeated after Omaveloxolone administration at 3 time points (minimum of 6 months) (Aim 2) FRDA participants will be asked to complete an MRS scan at 3 timepoints in order to observe GABA and GSH activity.

Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.

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.