[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"friedreichs-ataxia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:friedreichs-ataxia":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,41,69,97,122],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":4},"100645351","phase-3-long-term-efficacy-study-of-vatiquinone-for-the-treatment-of-friedreichs-ataxia-fa-100645351",false,"NCT07681713","Long-Term Efficacy Study of Vatiquinone for the Treatment of Friedreich's Ataxia (FA)","Evaluation of Long-Term Efficacy of Vatiquinone for the Treatment of Friedreich's Ataxia","PROVE-FA","Key Inclusion Criteria:\n\n* mFARS ≥20 to ≤70 at Screening (4 weeks prior to Day 1) and Baseline (Day 1).\n* Must be ambulatory as defined by a E7 score of 4 or less on the USS at Screening and Baseline.\n* Documentation that participants reached maximum score on items E4, E5, and E3b on the USS of mFARS at Screening and Baseline.\n* FA diagnosis (homozygous for guanine-adenine-adenine \\[GAA\\] repeat expansion in intron-1 of the frataxin gene), confirmed and documented with GAA repeat length for both alleles by clinical genetic testing.\n* Difference in the mFARS score between Screening and Baseline of no more than 4 points.\n* Ability to abstain from strong cytochrome P450 (CYP) 3A4 inducers\u002Finhibitors (for example, ketoconazole, rifampin, St. John's wort, grapefruit juice) for at least 4 weeks prior to Baseline and for the duration of the study.\n\nKey Exclusion Criteria:\n\n* Individuals with clinical diagnosis of FA who have point mutations, deletions, or other non-GAA expansion mutations.\n* Allergy to vatiquinone, sesame oil, gelatin (bovine and\u002For porcine), titanium dioxide, or red iron oxide.\n* Pregnant or lactating participants or those sexually active participants who are unwilling to comply with proper birth control methods; females of childbearing potential must have a negative pregnancy test at Screening and during the Baseline Visit.\n* Comorbidities that may confound study results (for example, fat malabsorption syndrome, other mitochondrial disorder) in the opinion of the investigator.\n* Participation in an interventional clinical study or received investigational drug (other than SKYCLARYS® \\[omaveloxolone\\]) within 60 days prior to Screening. Participants may be screened after the exclusionary period of 60 days has passed.\n* Current use of omaveloxolone. Previous use of omaveloxolone will be allowed if:\n\n  1. Use was less than 3 cumulative months and participants have been off treatment for \\>30 days.\n  2. Use was less than 6 cumulative months and participants have been off treatment for \\>90 days\n* Previous or concurrent use of other investigational treatment for FA.\n* Participation in any cell or gene therapy-based treatment for FA.\n* Participation in an ongoing study for vatiquinone or current or previous use of vatiquinone.\n* Illicit drug use 30 days prior to Screening and during the study.\n\nNote: Other protocol-defined inclusion and exclusion criteria may apply.","ALL","7 Years","21 Years",{"count":21,"type":22},120,"ESTIMATED","INTERVENTIONAL",[25],"PHASE3","The purpose of this study is to confirm the treatment effects of vatiquinone on the key measures of FA disease progression.",[28],"Friedreich's Ataxia","NOT_YET_RECRUITING","2026-06-26",{"date":32,"type":33},"2026-07-02","ACTUAL",{"date":35,"type":22},"2026-08-15",{"date":37,"type":22},"2029-03-15",{"name":39,"class":40},"PTC Therapeutics","INDUSTRY",{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":45,"acronym":4,"eligibilityCriteria":46,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":47,"targetDuration":4,"studyType":23,"phases":49,"briefSummary":51,"conditions":52,"keywords":53,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":59,"lastUpdatePostDateStruct":60,"startDateStruct":62,"completionDateStruct":64,"leadSponsor":66,"locationsCount":4},"100627107","cardiac-output-and-fatigue-in-friedreichs-ataxia-100627107","NCT07444333","Cardiac Output and Fatigue in Friedreich's Ataxia","Inclusion Criteria:\n\n1. Genetically confirmed FRDA\n2. Ability to safely ride a stationary bicycle (mFARS sitting posture sub-score \\\u003C2)\n\nExclusion Criteria:\n\n1. Beck depression score \\>19, a score that precludes ability to exercise.30,31\n2. Montreal Cognitive Assessment (MoCA) score \\\u003C23\u002F30.32\n3. Disorders that interfere with ability to perform endurance exercise (e.g., stroke, respiratory problems, traumatic brain injury, or neuromuscular disease).\n4. Regular participation in vigorous endurance exercise (defined as \\>2 days\u002Fweek for at least the past 4 months at max HR\\>65%).\n5. Evidence of serious arrhythmias or ischemic heart disease.",{"count":48,"type":22},30,[50],"NA","AIM 1: Acceptability and Feasibility of Home Aerobic Exercise. Individuals with other types of ataxia have been able to train at the above levels safely. We hypothesize that there will be no serious adverse events related to aerobic training, and there will be an acceptable number of minor adverse events. We further hypothesize that drop-out from the trial will be less than 25%.\n\nAIM 2: Impact of Omaveloxolone on VO2max. Omaveloxolone works by activating and preventing the degradation of Nuclear factor-like 2 (Nrf2), which helps prevent oxidative damage within the mitochondria of individuals with FRDA. Improved mitochondrial function should significantly enhance VO2max by increasing ATP production and improving the rate of oxygen consumption. Thus, we hypothesize that individuals on omaveloxolone will have a significantly larger increase in VO2max after the aerobic training when compared to individuals who are not on omaveloxolone.\n\nAIM 3: Impact of Aerobic Training + Omaveloxolone on Fatigue. Omaveloxolone has been shown to cause a transient (12-week) increase in fatigue. Aerobic training, on the other hand, is known to improve fatigue in individuals with other hereditary ataxias. For this aim, the primary outcome measure will be the Fatigue Severity Scale (FSS) with secondary measures of Fatigue Impact Scale (FIS) and 6-minute walk test (6MWT). We hypothesize improved fatigue with the incorporation of aerobic training and that individuals in the omaveloxolone group will have less fatigue than those not on omaveloxolone.",[28],[54,55,56,57,58],"Friedreich's ataxia","Aerobic exercise","Omaveloxolone","Fatigue","Cardiac Output","2026-02-26",{"date":61,"type":33},"2026-03-02",{"date":63,"type":22},"2026-04-01",{"date":65,"type":22},"2028-04-01",{"name":67,"class":68},"Scott Barbuto","OTHER",{"id":70,"slug":71,"hasResults":11,"nctId":72,"briefTitle":73,"officialTitle":73,"acronym":4,"eligibilityCriteria":74,"healthyVolunteers":75,"sex":17,"minAge":76,"maxAge":77,"enrollmentInfo":78,"targetDuration":4,"studyType":80,"phases":4,"briefSummary":81,"conditions":82,"keywords":83,"overallStatus":86,"whyStopped":4,"lastUpdateSubmitDate":87,"lastUpdatePostDateStruct":88,"startDateStruct":90,"completionDateStruct":92,"leadSponsor":94,"locationsCount":96},"100247282","biomarkers-in-friedreichs-ataxia-100247282","NCT02497534","Biomarkers in Friedreich's Ataxia","Inclusion Criteria:\n\n* Genetic diagnosis of Friedreich's ataxia by DNA sequencing, mutational analysis or protein assay OR be a healthy subject with no evidence of a neuromuscular disorder\n* Between the ages of 6 and 70 (inclusive)\n* Are able to tolerate metabolic exercise testing\n* Are stable on cardiac medication regimen for 3 months prior to screening\n\nExclusion Criteria:\n\n* Presence of unstable heart disease\n* Receipt of cardiac transplant\n* Any concurrent medical condition which, in the opinion of the investigators, would make the subject unsuitable for the study",true,"6 Years","70 Years",{"count":79,"type":22},203,"OBSERVATIONAL","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.",[28],[84,85],"ataxia","neuromuscular","RECRUITING","2025-09-17",{"date":89,"type":33},"2025-09-23",{"date":91,"type":4},"2015-09",{"date":93,"type":22},"2030-06-03",{"name":95,"class":68},"University of Florida",1,{"id":98,"slug":99,"hasResults":11,"nctId":100,"briefTitle":101,"officialTitle":101,"acronym":4,"eligibilityCriteria":102,"healthyVolunteers":75,"sex":17,"minAge":103,"maxAge":104,"enrollmentInfo":105,"targetDuration":4,"studyType":80,"phases":4,"briefSummary":107,"conditions":108,"keywords":109,"overallStatus":86,"whyStopped":4,"lastUpdateSubmitDate":113,"lastUpdatePostDateStruct":114,"startDateStruct":116,"completionDateStruct":118,"leadSponsor":120,"locationsCount":96},"100233408","characterization-of-the-cardiac-phenotype-of-friedreichs-ataxia-frda-100233408","NCT02316314","Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)","Friedreich's Ataxia - Inclusion Criteria:\n\n* Males and females, age 12 to 50\n* Willing and able to provide informed consent (adolescents will need to provide assent and a parent to provide consent)\n* Definitive diagnosis of FRDA, based on clinical phenotype and genotype\n* Left ventricle ejection fraction measured by ECHO of \\>35% (If results of an ECHO are not available for a potential subject, then an ECHO will first be performed and subjects with an LVEF \\\u003C35% will not be required to perform the CPET)\n\nFriedreich's Ataxia - Exclusion Criteria:\n\n* Signs and symptoms of cardiac failure\n* Moderate to severe atrial or ventricular arrythmias\n* History of angina pectoris\n* Implanted pacemaker and\u002F or defibrillator or any other device that would preclude MRI assessment\n* Any form of dialysis; Severe or end-stage CKD (CKD 4 or 5, eGFR \\\u003C 30 ml\u002Fmin\u002F1.73 m2) without dialysis; eGFR 30 to 40 ml\u002Fmin\u002F1.73 m2 without dialysis; Acute kidney injury (If a recent assessment is not available, then a blood test to assess kidney function will be performed prior to cardiac MRI)\n* Females who are pregnant\n* Receipt of an investigational drug within 30 days or 5 half-lives, whichever is longer, prior to screening, or active enrollment in an investigational medication or device study\n* Unable to undergo cardiac MRI with gadolinium contrast or claustrophobia\n* Clinical history or evidence of Type 1 or Type 2 Diabetes mellitus\n* Any condition, disorder, or abnormal laboratory test findings at screening which, in the judgment of the investigator, would interfere with the individual's ability to comply with all study requirements, or would require the administration of treatment during the study that could potentially affect the interpretation of the study data, or would place the individual at an unacceptable risk by his\u002F her participation in the study\n\nNormal controls - Inclusion Criteria:\n\n* Males and females, age 12 to 30\n* Willing and able to provide informed consent (Adolescents will need to provide assent and a parent to provide consent)\n* Matched age, gender and ethnicity to the FRDA group\n* Capable of undergoing the various modalities of cardiac assessment\n* Left ventricle ejection fraction measured by ECHO of \\>35% (If results of an ECHO are not available for a potential subject, then an ECHO will first be performed and subjects with an LVEF \\\u003C35% will be withdrawn from the study)\n\nNormal controls - Exclusion Criteria:\n\n* Individuals not deemed in good overall health by the investigator will not be accepted into the study\n* Signs and symptoms of cardiac failure\n* Moderate to severe atrial or ventricular arrhythmias\n* History of angina pectoris\n* Implanted pacemaker and\u002F or defibrillator or any other device that would preclude MRI assessment\n* Any form of dialysis; Severe or end-stage CKD (CKD 4 or 5, eGFR \\\u003C 30 ml\u002Fmin\u002F1.73 m2) without dialysis; eGFR 30 to 40 ml\u002Fmin\u002F1.73 m2 without dialysis; Acute kidney injury (If a recent assessment is not available, then a blood test to assess kidney function will be performed prior to cardiac MRI)\n* Females who are pregnant or lactating\n* Receipt of an investigational drug within 30 days or 5 half-lives, whichever is longer, prior to screening, or active enrollment in an investigational medication or device study\n* Unable to sit with back support\n* Unable to undergo cardiac MRI with gadolinium contrast or claustrophobia\n* Unable to undergo exercise tests\n* Clinical history or evidence of Type 1 or Type 2 Diabetes mellitus\n* Any condition, disorder, or abnormal laboratory test findings at screening which, in the judgment of the investigator, would interfere with the individual's ability to comply with all study requirements, or would require the administration of treatment during the study that could potentially affect the interpretation of the study data, or would place the individual at an unacceptable risk by his\u002F her participation in the study","12 Years","50 Years",{"count":106,"type":22},100,"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\u002F50,000 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.",[28],[28,110,111,112],"Cardiomyopathy","FRDA","Ataxia","2025-08-18",{"date":115,"type":33},"2025-08-19",{"date":117,"type":33},"2015-01-15",{"date":119,"type":22},"2026-08",{"name":121,"class":68},"Weill Medical College of Cornell University",{"id":123,"slug":124,"hasResults":11,"nctId":125,"briefTitle":126,"officialTitle":127,"acronym":128,"eligibilityCriteria":129,"healthyVolunteers":11,"sex":17,"minAge":130,"maxAge":131,"enrollmentInfo":132,"targetDuration":4,"studyType":23,"phases":133,"briefSummary":134,"conditions":135,"keywords":137,"overallStatus":86,"whyStopped":4,"lastUpdateSubmitDate":146,"lastUpdatePostDateStruct":147,"startDateStruct":149,"completionDateStruct":151,"leadSponsor":153,"locationsCount":96},"100600251","electroencephalogram-in-patients-with-friedreichs-ataxia-for-the-study-of-the-structural-and-functional-connectome-100600251","NCT07095062","Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.","Structural-Functional Connectome and High Density Electroencephalogram: Pilot Study in Patients With Friedreich's Ataxia.","CONNETTOMA","Inclusion criteria:\n\n* age between 8 and 60 years;\n* genetic diagnosis of FRDA: presence of guanine-adenine trinucleotide (GAA) expansion in the two alleles of the fratassin gene, GAA1 and GAA2;\n* score on the Scale for the Assessment and Rating of Ataxia (SARA) \\\u003C 30;\n* ability to take part in a neuropsychological assessment in Italian.\n\nExclusion criteria:\n\n* age different from the range 8-60 years;\n* diagnosis of acquired ataxia or other genetic ataxias;\n* SARA scale score ≥ 30;\n* inability to take part in an Italian-language neuropsychological assessment","8 Years","60 Years",{"count":48,"type":22},[50],"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.",[28,136],"Motor Disorders",[138,139,111,140,141,142,143,144,145],"Functional Connectivity","HD-EEG","Connectome","Cognitive Functioning","Neurodegenerative Disease","Cerebellar Disorders","Neurophysiological Biomarkers","Friedreich Ataxia","2025-07-23",{"date":148,"type":33},"2025-07-31",{"date":150,"type":33},"2025-07-07",{"date":152,"type":22},"2026-12-31",{"name":154,"class":68},"IRCCS Eugenio Medea"]