[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"friedreich-ataxia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:friedreich-ataxia":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,15,0,[8,42,70,94,117,138,167,196,217,237,265,672,694,718,754],{"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":41},"100589374","phase-3-a-study-to-learn-more-about-the-effects-and-long-term-safety-of-omaveloxolone-biib141-in-children-and-teens-with-friedreichs-ataxia-100589374",false,"NCT06953583","A Study to Learn More About the Effects and Long-Term Safety of Omaveloxolone (BIIB141) in Children and Teens With Friedreich's Ataxia","A Phase 3 Study to Evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Omaveloxolone (BIIB141) in Participants With Friedreich's Ataxia Aged 2 to \u003C 16 Years","BRAVE","Part 1: Key inclusion criteria:\n\n* Diagnosed with genetically confirmed Friedreich's Ataxia (FA), i.e., homozygous for guanine-adenine-adenine (GAA) repeat expansion in intron-1 of the frataxin gene, or GAA repeat expansion in 1 allele and with point mutations or deletions, or other non-GAA expansion mutations in the other allele.\n* Symptomatic for FA as confirmed by clinician assessment. a. Children 7 to \\\u003C 16 years must also have an upright stability score (USS) score of 10 to ≤ 34 at baseline\n\nPart 1: Key exclusion criteria:\n\n* Glycosylated hemoglobin A1C (HbA1c) \\> 11%\n* B-type natriuretic peptide (BNP) \\> 200 picograms per milliliter (pg\u002FmL) at screening\n* Ejection fraction (EF) \\\u003C 40% \\[based on echocardiogram (ECHO) performed at screening visit\\]\n* Clinically significant cardiac disease except mild to moderate cardiomyopathy\n\nPart 2A: Eligibility criteria:\n\n* They have completed Part 1 of the study and no discontinuation criteria have been met.\n* Safety and tolerability data from Part 1 are supportive of continuation in the judgement of the investigator.\n\nPart 2B: Eligibility criteria:\n\n* Participants have completed Part 1 of the study and no discontinuation criteria have been met.\n* Safety and tolerability data from Part 1 are supportive of continuation in the judgement of the Investigator.\n\nNote: Other protocol-defined Inclusion\u002FExclusion criteria may apply.","ALL","2 Years","15 Years",{"count":21,"type":22},255,"ESTIMATED","INTERVENTIONAL",[25],"PHASE3","In this study, researchers will learn more about omaveloxolone, also known as BIIB141 or SKYCLARYS®. Omaveloxolone is already approved for people with Friedreich's Ataxia (FA) who are 16 years of age or older. However, it is not yet available for younger teens and children. The main goal of this study is to learn how omaveloxolone affects symptoms of FA and its safety in younger participants between the ages of 2 and 15 years old.\n\nThe main questions researchers want to answer in this study are:\n\n* How does omaveloxolone affect the participants' FA symptoms?\n* How many participants have adverse events during the study?\n* Are there any changes in the participants' overall health or heart health? Adverse events are health problems that may or may not be caused by the study drug.\n\nResearchers will use the modified Friedreich's Ataxia Rating Scale (mFARS) to test nerve function. The mFARS tests movement ability, balance, coordination, speech, and arm and leg functions.\n\nThey will also use a number of questionnaires to learn more about participants' quality of life, muscle strength, and ability to perform daily tasks. Researchers will also note any changes as participants go through puberty.\n\nFinally, researchers will learn more about how the body processes omaveloxolone in children and teenagers.\n\nThis study will be done in 2 parts as follows:\n\n* Participants will be screened for up to 4 weeks to check if they can join the study.\n* In Part 1, participants will be randomly assigned to take either omaveloxolone or a placebo by mouth once a day for about 1 year. A placebo looks like the study drug but contains no real medicine.\n* Part 1 will be double blind. This means that the participants, study doctor, and site staff will not know if the participants are receiving omaveloxolone or a placebo.\n* Including screening, participants will have up to 9 clinic visits and 1 phone call during Part 1. If a participant does not join Part 2, they will have another safety follow-up phone call a month after their last dose of omaveloxolone.\n* Participants who complete Part 1 will move onto Part 2 where everyone will receive omaveloxolone for about 2 years.\n* During Part 2, participants will have up to 8 clinic visits and 1 phone call. Participants will also have a follow-up phone call about a month after they stop taking omaveloxolone.\n* In total, participants will have up to 17 clinic visits and 3 phone calls. Each participant will be in the study for up to 3 years.",[28],"Friedreich Ataxia","RECRUITING","2026-06-15",{"date":32,"type":33},"2026-06-16","ACTUAL",{"date":35,"type":33},"2025-06-09",{"date":37,"type":22},"2029-11-22",{"name":39,"class":40},"Biogen","INDUSTRY",34,{"id":43,"slug":44,"hasResults":11,"nctId":45,"briefTitle":46,"officialTitle":47,"acronym":4,"eligibilityCriteria":48,"healthyVolunteers":11,"sex":17,"minAge":49,"maxAge":4,"enrollmentInfo":50,"targetDuration":4,"studyType":52,"phases":4,"briefSummary":53,"conditions":54,"keywords":56,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":60,"lastUpdatePostDateStruct":61,"startDateStruct":63,"completionDateStruct":65,"leadSponsor":67,"locationsCount":69},"100582605","clinical-course-of-disease-in-participants-with-fa-cm-100582605","NCT06865482","Clinical Course Of Disease In Participants With FA-CM","Characteristics And Clinical Course Of Disease In Participants With Cardiomyopathy Associated With Friedreich Ataxia (CLARITY-FA)","Inclusion Criteria:\n\n* Male or female, ages ≥6 years at the time of signing the informed consent (and assent, if applicable).\n* Diagnosis of FA, based on clinical phenotype and genotype (GAA expansion on both alleles or compound heterozygous), with onset of FA occurring at ≤25 years of age\n* Confirmed left ventricular hypertrophy (LVH)\n* Left ventricular ejection fraction ≥40%\n\nExclusion Criteria:\n\n* Presence of other form(s) of CM contributing to heart failure (HF), clinically significant cardiac anatomic abnormality or congenital cardiac malformation, clinically significant coronary artery, uncorrected, hemodynamically significant primary structural valvular disease not due to CM\n* Currently receiving intermittent or continuous intravenous (IV) inotrope infusion, presence of a ventricular assist device, or history of prior heart transplantation\n* Contraindication to cMRI, participants \\\u003C12 years of age who cannot complete the cMRI without sedation will instead undergo ECHOs and are exempt from this criterion.\n* Prior organ transplantation\n* Initiation of cardiac resynchronization therapy (CRT) within 6 months prior to screening.\n* History of prior gene transfer or cell therapy.\n* Poorly controlled diabetes (hemoglobin A1c ≥8%)\n* Active hematologic or solid organ malignancy","6 Years",{"count":51,"type":22},65,"OBSERVATIONAL","Characteristics and clinical course of disease In participants with cardiomyopathy associated with Friedreich Ataxia (CLARITY-FA)",[28,55],"Cardiomyopathy",[28,57,55,58,59],"FA-CM","FA","Cardiac Disease","2026-06-04",{"date":62,"type":33},"2026-06-08",{"date":64,"type":33},"2025-09-30",{"date":66,"type":22},"2027-09",{"name":68,"class":40},"Lexeo Therapeutics",19,{"id":71,"slug":72,"hasResults":11,"nctId":73,"briefTitle":74,"officialTitle":75,"acronym":4,"eligibilityCriteria":76,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":77,"enrollmentInfo":78,"targetDuration":4,"studyType":23,"phases":80,"briefSummary":82,"conditions":83,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":84,"lastUpdatePostDateStruct":85,"startDateStruct":87,"completionDateStruct":89,"leadSponsor":91,"locationsCount":93},"100550434","phase-2-an-open-label-study-of-cti-1601-in-subjects-with-friedreichs-ataxia-100550434","NCT06447025","An Open-Label Study of CTI-1601 in Subjects With Friedreich's Ataxia","An Open-Label Extension Study to Assess the Long-Term Safety, Efficacy, Pharmacodynamics, Pharmacokinetics, and Tolerability of Subcutaneous CTI-1601 in Subjects With Friedreich's Ataxia","Inclusion Criteria:\n\n* Subjects with FRDA who have or have not previously completed participation in a study of CTI-1601 are eligible to participate in this study unless the subject experienced one or more of the following in a previous CTI-1601 study: a) serious adverse event (SAE) related to study drug; b) significant AE, defined as Grade 3 or higher according to the Common Terminology Criteria for Adverse Events (CTCAE), version 5.0 (or higher), related to study drug; c) some other event, related to participation in a previous study with CTI-1601, that supports the exclusion of the subject from participating in this study as determined by the Sponsor (i.e., an AE considered clinically significant by the Sponsor regardless of whether it met SAE criteria and regardless of CTCAE grade); d) Withdraw from participation in a previous study of CTI-1601 for any reason.\n* Subject has a HbA1c less than or equal to 7.0%.\n* Subject must demonstrate sufficient dexterity and visual acuity to prepare and self-administer SC injections of CTI-1601 QD or is able to identify a caregiver who will be trained and committed to prepare and administer the daily injections.\n\nIf subject is taking permitted concomitant medication(s), subject must have been on a stable dose and frequency of medication(s) over the past 28 days prior to the initiation of Screening; however, subjects taking niacin and resveratrol must have been on a stable dose and frequency for 90 days prior to the initiation of Screening\n\n\\- Subjects who are currently receiving omaveloxolone or intend to receive omaveloxolone are permitted in the study but must either receive CTI-1601 for 3 months prior to their first dose of omaveloxolone or receive omaveloxolone for 3 months prior to their first dose of CTI-1601.\n\nExclusion Criteria:\n\nSubjects are excluded from the study if any of the following exclusion criteria are met:\n\n* Subjects who are confirmed as compound heterozygous (GAA repeat expansion on only one allele) for FRDA.\n* Subject has any condition, disease, or situation, including a cardiac condition or disease, that in the opinion of the PI, could confound the results of the study or put the subject at undue risk, making participation inadvisable.\n* Subject used any investigational drug (other than CTI-1601) or device within 90 days prior to Screening.\n* Subject requires use of amiodarone.\n* Subject used erythropoietin, etravirine, or gamma interferon within 90 days prior to Screening.\n* Subject use of biotin supplementation that exceeds 30 mcg\u002Fday, either as part of a multivitamin or as a standalone supplement, within 7 days prior to the first dose of study drug. Biotin supplementation ≤30 mcg\u002Fday is permitted if taken at a stable dose and frequency for at least 28 days prior to Screening and there is a commitment from the subject to maintain the biotin dose throughout the study (due to interference with assays).\n* Subject uses more than 3 grams of acetaminophen daily.\n* Subject receives medication that requires SC injection in the abdomen or thigh.\n* Subject is unable to discontinue medications that have not been at a stable dose and frequency for at least 28 days prior to Screening.\n* Subject has a Screening echocardiogram (ECHO) LVEF \\\u003C 45%.\n* Male subject has a QTcF \\> 450 milliseconds or female subject has a QTcF \\> 470 milliseconds on an ECG.","60 Years",{"count":79,"type":22},85,[81],"PHASE2","An open label study designed to evaluate the safety, PK, PD, and clinical effects of long-term daily administration of CTI-1601 enrolling adolescent and adult patients with FRDA who have participated in a prior clinical study of CTI-1601 as well as children (age 2 years and older), adolescents and adults with FRDA who have not participated in a prior clinical study of CTI-1601.",[28],"2026-05-08",{"date":86,"type":33},"2026-05-13",{"date":88,"type":33},"2024-01-25",{"date":90,"type":22},"2027-01",{"name":92,"class":40},"Larimar Therapeutics, Inc.",8,{"id":95,"slug":96,"hasResults":11,"nctId":97,"briefTitle":98,"officialTitle":99,"acronym":4,"eligibilityCriteria":100,"healthyVolunteers":11,"sex":17,"minAge":101,"maxAge":4,"enrollmentInfo":102,"targetDuration":4,"studyType":52,"phases":4,"briefSummary":104,"conditions":105,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":106,"lastUpdatePostDateStruct":107,"startDateStruct":109,"completionDateStruct":111,"leadSponsor":113,"locationsCount":116},"100593965","efficacy-of-omaveloxolone-treatment-for-dysphagia-in-french-patients-with-friedreichs-ataxia-100593965","NCT07013292","Efficacy of Omaveloxolone Treatment for Dysphagia in French Patients With Friedreich's Ataxia","Retrospective Bicentric Study in a Cohort of French Friedreich's Ataxia Patients on the 6-month Efficacy of Omaveloxolone Treatment on Dysphagia.","Inclusion Criteria:\n\n* Aged ≥ 16 Years\n* Confirmed diagnosis of Friedreich's ataxia, genetically verified.\n* Omaveloxolone therapy between February 2024 and May 2025, having receive treatment for at least 6 months.\n\nExclusion Criteria:\n\n* Participants who interrupted treatment permanently before 6 months.\n* Participants who did not complete the SSQ (Sydney swallow Questionnaire) at baseline and after 6 months of treatment.","16 Years",{"count":103,"type":22},40,"Friedreich's ataxia (FA) is a rare, inherited neurodegenerative disease that typically begins in children and young people. It primarily affects the spinal cord, peripheral nerves and cerebellum of the brain. Clinical manifestations include progressive gait and limb ataxia, auditory and optic neuropathy, cardiomyopathy, scoliosis, dysarthria, and dysphagia. In advanced stages, individuals may become wheelchair-dependent, leading to a severe loss of autonomy and reduced life expectancy. To date, there are no effective treatments known to reverse or halt disease progression. Heart disease remains the leading cause of death in individuals with FA. In January 2024, Omaveloxolone was approved for early access in France to treat FA in patients aged 16 years and older. Dysphagia is a central manifestation in FA, and may lead to severe complications such as malnutrition, dehydration, and aspiration-related pneumonia, as well as reduced self-esteem and social isolation. Despite its clinical relevance, dysphagia remains underexplored in clinical trials, including in major Omaveloxolone studies where no specific tool for measuring dysphagia has been incorporated. This study aimed to comprehensively evaluate the effect of Omaveloxolone on dysphagia after six months of treatment, in a cohort of French patients with Friedreich's ataxia who benefited from early access to treatment between February 2024 and May 2025. The severity of dysphagia will be assessed using the Sydney Swallow Questionnaire (SSQ), completed by patients at baseline and after six months of Omaveloxolone treatment.",[28],"2026-04-24",{"date":108,"type":33},"2026-04-29",{"date":110,"type":33},"2025-06-01",{"date":112,"type":22},"2026-06-30",{"name":114,"class":115},"Centre Hospitalier Universitaire de Nice","OTHER",1,{"id":118,"slug":119,"hasResults":11,"nctId":120,"briefTitle":121,"officialTitle":122,"acronym":4,"eligibilityCriteria":123,"healthyVolunteers":11,"sex":17,"minAge":101,"maxAge":4,"enrollmentInfo":124,"targetDuration":126,"studyType":52,"phases":4,"briefSummary":127,"conditions":128,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":129,"lastUpdatePostDateStruct":130,"startDateStruct":132,"completionDateStruct":134,"leadSponsor":136,"locationsCount":137},"100564032","a-study-to-learn-more-about-the-long-term-safety-of-biib141-omaveloxolone-in-participants-with-friedreichs-ataxia-who-are-prescribed-it-by-their-own-doctors-100564032","NCT06623890","A Study to Learn More About the Long-Term Safety of BIIB141 (Omaveloxolone) in Participants With Friedreich's Ataxia Who Are Prescribed it by Their Own Doctors","An Observational, Multinational, Post-Marketing Registry of Omaveloxolone-Treated Patients With Friedreich's Ataxia","Key Inclusion Criteria:\n\n* Documented diagnosis of FA, including confirmation via genetic testing.\n* Participants aged 16 years and older at initiation of omaveloxolone treatment.\n\nFor the omaveloxolone-naive cohort\n\n\\- Initiating omaveloxolone treatment as per an approved label concurrent with enrolling in this study.\n\nFor the omaveloxolone-non-naive cohort\n\n* Initiated omaveloxolone treatment as per an approved label less than 12 months prior to enrollment in this study\n* Prior to enrollment, maintained omaveloxolone treatment with no discontinuation of more than 60 days\n* Actively on treatment at the time of enrollment in this study\n* Treating physician is the study site principal investigator or sub-investigator\n* Study site confirms ability to provide required baseline data through medical record review, UNIFAI database, or other site-collected data\n* Enrolled in the UNIFAI study prior to initiation of omaveloxolone treatment\n\nKey Exclusion Criteria:\n\n* Received off-label prescription of omaveloxolone at any time.\n* Previously enrolled in a clinical trial of omaveloxolone.\n* Participating in a blinded interventional trial at the time of enrollment in the study; participants may participate in other clinical trials after baseline data are collected.\n\nNote: Other protocol-defined Inclusion\u002FExclusion criteria may apply.",{"count":125,"type":22},300,"5 Years","In this study, researchers will learn more about the safety of BIIB141, also known as omaveloxolone or SKYCLARYS®. This is a drug available for doctors to prescribe for people with Friedreich'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. Participants for this study will be found using a group called the Friedreich's Ataxia Global Clinical Consortium (FA GCC) UNIFIED Natural History Study (UNIFAI). The FA-GCC is a group of study research centers that helps provide clinical care for FA patients and also helps researchers learn more about how FA affects patients over a long time.\n\nThe main objective of this study is to collect safety information in participants with FA from UNIFAI. Some of the participants in this study will be prescribed BIIB141 for the first time by their own doctors. Some of the participants will have started taking BIIB141 after joining UNIFAI, but less than 12 months before joining this study.\n\nThe main questions researchers want to answer in this study are:\n\n* How many participants had serious adverse events (SAEs)? An adverse event is considered serious when it results in death, is life-threatening, causes lasting problems, or requires hospital care.\n* How many participants had adverse events (AEs) related to heart failure or liver damage caused by the drug?\n\nResearchers will also learn more about :\n\n• Why and when participants stopped treatment, left the study, or took more of the drug than was prescribed\n\nThis study will be done as follows:\n\n* Participants will be screened to check if they can join the study.\n* After joining the study, the participants who had never started BIIB141 treatment before must start it within 6 months. Otherwise, all participants will take BIIB141 throughout this study as prescribed by their own doctor.\n* During the study, each participant's doctor will decide how often the participant visits the study research center to check on their health. This will be based on the doctor's own clinical judgment and what is recommended by the drug's label.\n* Data from the participants' regular visits to their doctor will be collected at 1 month, 2 months, 3 months, 6 months, 12 months, 24 months, 36 months, 48 months, and 60 months.\n* Each participant will be in the study for up to 5 years.",[28],"2026-04-23",{"date":131,"type":33},"2026-04-28",{"date":133,"type":33},"2024-12-12",{"date":135,"type":22},"2029-10-01",{"name":39,"class":40},14,{"id":139,"slug":140,"hasResults":11,"nctId":141,"briefTitle":142,"officialTitle":142,"acronym":143,"eligibilityCriteria":144,"healthyVolunteers":11,"sex":17,"minAge":145,"maxAge":4,"enrollmentInfo":146,"targetDuration":4,"studyType":52,"phases":4,"briefSummary":148,"conditions":149,"keywords":150,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":157,"lastUpdatePostDateStruct":158,"startDateStruct":160,"completionDateStruct":162,"leadSponsor":164,"locationsCount":166},"100511712","patient-reported-health-economic-and-psychosocial-outcomes-in-friedreich-ataxia-100511712","NCT05943002","Patient-reported, Health Economic and Psychosocial Outcomes in Friedreich Ataxia","PROFA","Inclusion Criteria:\n\n* FA confirmed by molecular genetic testing\n* Ataxia severity of ≤30 points according to the Scale of the Assessment and Rating of Ataxia (SARA)\n* Access to a smartphone or tablet and able to operate the device\n* Older than 12 years\n\nExclusion Criteria:\n\n* Lack of ability to give consent\n* Ataxia severity \\>30 according to the Scale of the Assessment and Rating of Ataxia (SARA)","12 Years",{"count":147,"type":22},200,"The PROFA study is an international, multi-centric observational and validation study to assess the patient-reported, psychosocial and economic outcomes of patients with Friedreich Ataxia (FA). Eligible patients will be recruited from six study centers in Germany, Austria and France. Patients will complete a baseline assessment via face-to-face interviews at the study centers and multiple momentary follow-up assessments via a mobile-health app at home daily to monthly for six months. Study results will gain essential and in-depth insights into the daily life of patients with FA.",[28],[151,152,153,154,155,156],"health-related quality of life","economic evaluation","psychosocial health","mobile-health app","Friedreich's Ataxia","Ambulatory assessment","2026-03-31",{"date":159,"type":33},"2026-04-01",{"date":161,"type":33},"2023-06-01",{"date":163,"type":22},"2028-12-31",{"name":165,"class":115},"German Center for Neurodegenerative Diseases (DZNE)",6,{"id":168,"slug":169,"hasResults":11,"nctId":170,"briefTitle":171,"officialTitle":171,"acronym":4,"eligibilityCriteria":172,"healthyVolunteers":11,"sex":17,"minAge":145,"maxAge":173,"enrollmentInfo":174,"targetDuration":4,"studyType":23,"phases":176,"briefSummary":178,"conditions":179,"keywords":183,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":188,"lastUpdatePostDateStruct":189,"startDateStruct":190,"completionDateStruct":192,"leadSponsor":194,"locationsCount":116},"100462485","phase-1-phase-ia-and-ib-study-of-aavrh10hfxn-gene-therapy-for-the-cardiomyopathy-of-friedreichs-ataxia-100462485","NCT05302271","Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia","Inclusion Criteria:\n\n* Males and females, age 12 to 50\n* Willing and able to provide informed consent\n* Definitive diagnosis of FA, based on clinical phenotype and genotype (GAA expansion on both alleles)\n* \\>600 GAA repeats in intron 1 in at least one allele\n* FARS and SARA neurologic scores consistent with diagnosis of Friedreich's ataxia\n* Left ventricle ejection fraction (EF) measured by cardiac MRI of ≥35% to 75%\n* Evidence of FA-related cardiac disease, must meet the following criteria: must be abnormal in ≥2 of the following parameters, at least one of which is an abnormal cardiac MRI left ventricular mass index or abnormal cardiopulmonary exercise test\n\n  1. Adults: In the absence of other factors known to cause left ventricular hypertrophy, cardiac MRI left ventricular mass index \\>2 standard deviations above the normal range (males \\>84 gm\u002Fm2, females \\>69 gm\u002Fm2 or Pediatrics: In the absence of other factors known to cause left ventricular hypertrophy, cardiac MRI left ventricular mass index \\>95th centile based on normal BSA for their age and gender\n  2. Cardiopulmonary arm crank testing with assessment of VO2 max ≤20 mL\u002Fkg-min, peak VO2 ≥10 mL\u002Fkg-min while maintaining revolutions of ≥40\u002Fmin. To insure consistency of effort, peak RER ≥1.0\n  3. Cardiac MRI stroke volume index \\\u003C45 mL\u002Fm2\n  4. Cardiac MRI global longitudinal left ventricular strain \\\u003C20%\n  5. Serum high-sensitivity cardiac troponin above the normal range\n* Fibrosis ≤10% in the left ventricular wall on late gadolinium enhancement cardiac MRI\n* Resting O2 saturation ≥95%\n* Serum neutralizing anti-AAVrh.10 titer \\\u003C1:125\n* Hematocrit \\>30%\n* White blood cell levels within normal limits\n* Normal prothrombin, partial thromboplastin time\n* Normal liver-related serum parameters (ALT, AST, ALP, bilirubin); normal liver ultrasound and serum alpha fetoprotein\n* Normal kidney function as assessed by plasma urea and creatinine; estimated GFR \\>30 mL\u002Fmin\u002F1.73m2\n* No evidence of active infection of any types, including hepatitis virus (A, B or C), human immunodeficiency virus (HIV-1 and HIV-2), or SARS-CoV2\n* Fertile individuals should utilize barrier birth control measures to prevent pregnancy for up to 6 months after vector administration\n* Individuals not receiving experimental medications or participating in another experimental protocol for at least 12 wk prior to entry to the study (individuals who are\u002Fhave received approved therapy will be included).\n* Capable of undergoing cardiac MRI\n* No contraindications to receiving corticosteroid immunosuppression\n\nExclusion Criteria:\n\n* Individuals receiving corticosteroids or other immunosuppressive medications\n* Individuals with uncontrolled diabetes (glycated hemoglobin, HbA1c levels \\>7%)\n* Genotype FA missense mutation on one or both alleles\n* Evidence of infection defined by elevated white blood cell count, temperature \\>38.5̊ C, infiltrate on chest x-ray\n* Decompensated heart failure (NY4A class III-IV at time of baseline clinical assessment)\n* Hemoglobin \\\u003C10 g\u002Fdl\n* Absolute neutrophil count \\\u003C1500 cells\u002Fmm3\n* Platelet count \\\u003C100,000 cells\u002Fmm3\n* Hemodynamically unstable atrial or ventricular arrhythmias which require medical intervention\n* Contraindication to cardiac MRI (e.g., non-MRI compatible pacemaker\u002Fdefibrillator) or gadolinium (known or suspected hypersensitivity, glomerular filtration rate \\\u003C30 mL\u002Fmin\u002F1.73m2)\n* Any malignancy during the last five years, except basal cell skin cancer\n* Unrelated clinical condition with life expectancy \\\u003C12 months (prohibiting follow-up)\n* Concomitant conditions (other than FA) known to produce left ventricular hypertrophy, including aortic stenosis, systemic hypertension (BP ≥140\u002F90 on noninvasive blood pressure), or genetically mediated hypertrophic cardiomyopathy\n* Use of oxygen supplementation\n* Risk for thromboembolic disease, including history of thromboembolic disease hospitalization within the last 90 days, recent trauma and\u002For recent surgical procedure. If the history of thromboembolic disease is not definitive, the subject will be excluded if laboratory testing suggests a risk for thromboembolic disease because of mutations in the protein-S, protein C, antithrombin, factor V Leiden or prothrombin gene\n* Any uncontrolled psychiatric disease\n* Pregnant or breastfeeding woman\n* Prior participation in any gene and\u002For cell therapy\n* Known obstructive coronary artery disease (as documented by clinical history of myocardial infarction, prior coronary revascularization or angina symptoms (Canadian Cardiovascular Society grade ≥2 at time of baseline clinical assessment), or epicardial obstructive coronary artery disease (≥ 50% left main, ≥ 70% of other major coronary arteries)\n* Any lung function abnormalities that would affect cardiopulmonary testing\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\u002Fher participation in the study\n* If prior infection with SARS-CoV2, any related residual cardiac or pulmonary abnormalities\n* Alcoholism or drug addiction (see reference 71 for alcoholism, reference 72 for drug addiction)","50 Years",{"count":175,"type":22},25,[177],"PHASE1","The 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 25 participants.",[28,180,181,182],"Cardiomyopathies","Cardiac Hypertrophy","Myocardial Fibrosis",[184,185,186,187],"Ataxia","Friedreich's ataxia","Pediatric","Gene therapy","2026-03-30",{"date":157,"type":33},{"date":191,"type":33},"2022-02-22",{"date":193,"type":22},"2029-12-31",{"name":195,"class":115},"Weill Medical College of Cornell University",{"id":197,"slug":198,"hasResults":11,"nctId":199,"briefTitle":200,"officialTitle":201,"acronym":202,"eligibilityCriteria":203,"healthyVolunteers":11,"sex":17,"minAge":204,"maxAge":205,"enrollmentInfo":206,"targetDuration":4,"studyType":52,"phases":4,"briefSummary":207,"conditions":208,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":209,"lastUpdatePostDateStruct":210,"startDateStruct":212,"completionDateStruct":214,"leadSponsor":216,"locationsCount":116},"100632049","friedreich-ataxia-nerve-ultrasund-100632049","NCT07508631","Friedreich Ataxia Nerve Ultrasund","Friedreich Ataxia Nerve Ultrasund and Clinical Correlations","FAUST","Inclusion Criteria:\n\n* Patients aged between 18 and 70 years.\n* Genetically confirmed diagnosis of Friedreich's Ataxia.\n* Followed at the Neurogenetics Competence Centre, CHU Nice.\n* Have undergone peripheral nerve ultrasound between December 2025 and April 2026.\n\nExclusion Criteria:\n\n* Patients for whom peripheral nerve ultrasound data is unavailable.","18 Years","70 Years",{"count":137,"type":22},"\"Friedreich ataxia is the most common inherited autosomal recessive ataxia. It is caused by a GAA repeat expansion in the frataxin gene on chromosome 9q21.11. Symptoms usually begin in childhood, typically between 9 and 13 years of age. The disease leads to progressive damage of the nervous system and the heart, as well as multisystem involvement of various degrees, leading to diabetes, vision and hearing loss and scoliosis. Over time, most patients lose the ability to walk and require a wheelchair, often by their mid-twenties. The severity and progression of the disease can vary depending on various factors such as the age at onset and the size of the GAA triplet expansion.\n\nTraditionally, Friedreich ataxia has been considered a disorder primarily affecting nerve cells, also called neuronopathy. However, recent studies using ultrasound imaging of peripheral nerves have shown that some nerves may appear enlarged, particularly in the upper limbs. This is in contrast with findings usually observed in other neuronopathies, where peripheral nerves tend to become thinner.\n\nThe aim of this study is to use nerve ultrasound to better understand changes in intraneural vascularization and nerve in patients with Friedreich ataxia. In particular, we assess the presence of intraneural blood flow within the nerves using a high-resolution ultrasound technique.\n\nThe study includes 13 patients with genetically confirmed Friedreich ataxia who are followed at the Neurogenetics Competence Center of Nice University Hospital. Ultrasound examinations are performed on the median and ulnar nerves at standardized locations: for median nerve at wrist, forearm (10 cm from the distal wrist crease), antecubital fossa, mid-arm and axilla; for ulnar nerve at the wrist, forearm (10 cm from the pisiform bone), at the elbow (5 cm below and above the elbow), mid-arm and axilla; the brachial plexus is measured at level C5, C6, C7.\n\nIn addition to vascularization, we also measure nerve size (cross-sectional area) and evaluate internal nerve structure.\n\nThis study aims to improve understanding of nerve involvement in Friedreich ataxia and to explore whether ultrasound could provide useful markers of disease severity.\"",[28],"2026-03-27",{"date":211,"type":33},"2026-04-02",{"date":213,"type":33},"2025-12-01",{"date":215,"type":22},"2026-04-30",{"name":114,"class":115},{"id":218,"slug":219,"hasResults":11,"nctId":220,"briefTitle":221,"officialTitle":222,"acronym":4,"eligibilityCriteria":223,"healthyVolunteers":11,"sex":224,"minAge":101,"maxAge":4,"enrollmentInfo":225,"targetDuration":4,"studyType":52,"phases":4,"briefSummary":227,"conditions":228,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":229,"lastUpdatePostDateStruct":230,"startDateStruct":232,"completionDateStruct":234,"leadSponsor":236,"locationsCount":116},"100564400","a-study-to-learn-how-biib141-omaveloxolone-affects-the-health-of-participants-with-friedrichs-ataxia-who-took-it-during-pregnancy-andor-during-breastfeeding-and-about-the-health-of-their-babies-100564400","NCT06628687","A Study to Learn How BIIB141 (Omaveloxolone) Affects the Health of Participants With Friedrich's Ataxia Who Took it During Pregnancy and\u002For During Breastfeeding and About the Health of Their Babies","A Post-marketing, Observational, Descriptive Study to Assess the Risk Associated With Pregnancy, the Maternal Complications, and Adverse Effects on the Developing Fetus, Neonate, and Infant Among Individuals Exposed to Omaveloxolone During Pregnancy and\u002For Lactation","Key Inclusion Criteria:\n\n\\- Exposure to omaveloxolone for FA at any time during pregnancy (from 12 days prior to conception to pregnancy outcome) and\u002For at any time during lactation (up to 1 year of infant age or weaning, whichever comes first).\n\nKey Exclusion Criteria:\n\n\\- Not having exposure to omaveloxolone for FA.\n\nNote: Other protocol-defined Inclusion\u002FExclusion criteria may apply.","FEMALE",{"count":226,"type":22},20,"In this study, researchers will learn more about the safety of BIIB141, also known as omaveloxolone or SKYCLARYS. This is a drug available for doctors to prescribe for people with 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. Participants for this study will have taken BIIB141 at any time during pregnancy and\u002For while breastfeeding or pumping up through the first year after delivery. Participants can join this study on their own or they may be enrolled by their regular doctors. This study is also known as the \"SKYCLARYS (Omaveloxolone) Pregnancy and Lactation Surveillance Program.\"\n\nThe main objective of this study is to learn more about how BIIB141 may affect pregnancy, as well as any effects on the health of the mother and of the baby during its first year of life.\n\nThe main question researchers want to answer in this study is:\n\n· Does taking BIIB141 during pregnancy or breastfeeding lead to any major birth defects?\n\nResearchers will also learn more about:\n\n* Does taking BIIB141 during pregnancy or breastfeeding lead to any minor birth defects?\n* Does taking BIIB141 during pregnancy or breastfeeding affect the following:\n* Gestational diabetes, a disease that can happen during pregnancy that affects how your body uses sugar\n* Pre-eclampsia, a pregnancy-related high blood pressure disease\n* Unborn baby being small for its expected age (usually in weeks)\n* Loss of an unborn baby\n* Live birth\n* Premature birth\n* Loss of a newborn\n* Growth or developmental delays in the baby\n* Serious illness in the baby resulting in hospitalization\n* Serious infections in the baby, or ones in babies with a weakened immune system\n\nThis study will be done as follows:\n\n* Participants will join the study after signing an informed consent form, also known as an ICF.\n* During the study, health information from the participants' regular visits to their doctor will be collected based on whether participant joined the study while pregnant or after the baby is born.\n* Each participant will be in the study for up to 1 year after the birth of their child, unless they decide to leave early. Overall, this study is expected to last at least 10 years.",[28],"2025-06-23",{"date":231,"type":33},"2025-06-26",{"date":233,"type":22},"2026-10-26",{"date":235,"type":22},"2035-04-30",{"name":39,"class":40},{"id":238,"slug":239,"hasResults":11,"nctId":240,"briefTitle":241,"officialTitle":241,"acronym":242,"eligibilityCriteria":243,"healthyVolunteers":244,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":245,"targetDuration":247,"studyType":52,"phases":4,"briefSummary":248,"conditions":249,"keywords":250,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":256,"lastUpdatePostDateStruct":257,"startDateStruct":259,"completionDateStruct":261,"leadSponsor":263,"locationsCount":41},"100517392","friedreich-ataxia-global-clinical-consortium-unified-natural-history-study-100517392","NCT06016946","Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study","UNIFAI","Inclusion Criteria:\n\n1. Both males and females of any age\n2. Individuals with Friedreich ataxia (FA): Participants that meet genetically confirmed diagnosis of Friedreich ataxia\n3. Written informed consent provided\n\n   1. Informed consent must be obtained for all participants\n   2. For underage participants, they and the parent\u002F legally authorized representative have to sign the informed consent form, child assent (if applicable)\n   3. Persons who are not legally competent require the informed consent of their legally authorized representative\n\n   Exclusion Criteria:\n4. Unable or unwilling to provide informed consent\n5. Acute or ongoing medical or other conditions that would interfere with the conduct and assessments of the study\n6. For any reason in the opinion of the investigator, participant would be unlikely or unable to comply with study protocol requirements.",true,{"count":246,"type":22},3000,"25 Years","This project is a global, multicenter, prospective, longitudinal, observational natural history study that can be used to understand the disease progression and support the development of safe and effective drugs and biological products for Friedreich ataxia.",[28],[251,252,184,253,254,255],"Rare Disease","Neuro-degenerative disease","Neurodegenerative Diseases","Neurologic Manifestations","Genetic Diseases, Inborn","2025-06-13",{"date":258,"type":33},"2025-06-17",{"date":260,"type":33},"2023-06-28",{"date":262,"type":22},"2048-01-28",{"name":264,"class":115},"Friedreich's Ataxia Research Alliance",{"id":266,"slug":267,"hasResults":11,"nctId":268,"briefTitle":269,"officialTitle":270,"acronym":271,"eligibilityCriteria":272,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":273,"targetDuration":275,"studyType":52,"phases":4,"briefSummary":276,"conditions":277,"keywords":620,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":662,"lastUpdatePostDateStruct":663,"startDateStruct":665,"completionDateStruct":667,"leadSponsor":669,"locationsCount":671},"100193378","rare-disease-patient-registry--natural-history-study---coordination-of-rare-diseases-at-sanford-100193378","NCT01793168","Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford","Coordination of Rare Diseases at Sanford","CoRDS","Inclusion Criteria:\n\n* Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare\u002Funcommon disease\n\nExclusion Criteria:\n\n* Diagnosis of a disease which is not rare",{"count":274,"type":22},20000,"100 Years","CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org\u002FCoRDS to enroll.",[278,279,280,281,282,283,284,285,286,287,288,289,290,291,292,293,294,295,296,297,298,299,300,301,302,303,304,305,306,307,308,309,310,311,312,313,314,315,316,317,318,319,320,321,322,323,324,325,326,327,328,329,330,331,332,333,334,335,336,337,338,339,340,341,342,343,344,345,346,347,348,349,350,351,352,353,354,355,356,357,358,359,360,361,362,363,364,365,366,367,368,369,370,371,372,373,374,375,376,377,378,379,380,381,382,383,384,385,386,387,388,389,390,391,392,393,394,395,396,397,398,399,400,401,402,403,404,405,406,407,408,409,410,411,412,413,414,415,416,417,418,419,420,421,422,423,424,28,425,426,427,428,429,430,431,432,433,434,435,436,437,438,439,440,441,442,443,444,445,446,447,448,449,450,451,452,453,454,455,456,457,458,459,460,461,462,463,464,465,466,467,468,469,470,471,472,473,474,475,476,477,478,479,480,481,482,483,484,485,486,487,488,489,490,491,492,493,494,495,496,497,498,499,500,501,502,503,504,505,506,507,508,509,510,511,512,513,514,515,516,517,518,519,520,521,522,523,524,525,526,527,528,529,530,531,532,533,534,535,536,537,538,539,540,541,542,543,544,545,546,547,548,549,550,551,552,553,554,555,556,557,558,559,560,561,562,563,564,565,566,567,568,569,570,571,572,573,574,575,576,577,578,579,580,581,582,583,584,585,586,587,588,589,590,591,592,593,594,595,596,597,598,599,600,601,602,603,604,605,606,607,608,609,610,611,612,613,614,615,616,617,618,619],"Rare Disorders","Undiagnosed Disorders","Disorders of Unknown Prevalence","Cornelia De Lange Syndrome","Prenatal Benign Hypophosphatasia","Perinatal Lethal Hypophosphatasia","Odontohypophosphatasia","Adult Hypophosphatasia","Childhood-onset Hypophosphatasia","Infantile Hypophosphatasia","Hypophosphatasia","Kabuki Syndrome","Bohring-Opitz Syndrome","Narcolepsy Without Cataplexy","Narcolepsy-cataplexy","Hypersomnolence Disorder","Idiopathic Hypersomnia Without Long Sleep Time","Idiopathic Hypersomnia With Long Sleep Time","Idiopathic Hypersomnia","Kleine-Levin Syndrome","Kawasaki Disease","Leiomyosarcoma","Leiomyosarcoma of the Corpus Uteri","Leiomyosarcoma of the Cervix Uteri","Leiomyosarcoma of Small Intestine","Acquired Myasthenia Gravis","Addison Disease","Hyperacusis (Hyperacousis)","Juvenile Myasthenia Gravis","Transient Neonatal Myasthenia Gravis","Williams Syndrome","Lyme Disease","Myasthenia Gravis","Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)","Isolated Klippel-Feil Syndrome","Frasier Syndrome","Denys-Drash Syndrome","Beckwith-Wiedemann Syndrome","Emanuel Syndrome","Isolated Aniridia","Axenfeld-Rieger Syndrome","Aniridia-intellectual Disability Syndrome","Aniridia - Renal Agenesis - Psychomotor Retardation","Aniridia - Ptosis - Intellectual Disability - Familial Obesity","Aniridia - Cerebellar Ataxia - Intellectual Disability","Aniridia - Absent Patella","Aniridia","Peters Anomaly - Cataract","Peters Anomaly","Potocki-Shaffer Syndrome","Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11","Silver-Russell Syndrome Due to Imprinting Defect of 11p15","Silver-Russell Syndrome Due to 11p15 Microduplication","Syndromic Aniridia","WAGR Syndrome","Wolf-Hirschhorn Syndrome","4p16.3 Microduplication Syndrome","4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome","Autosomal Recessive Stickler Syndrome","Stickler Syndrome Type 2","Stickler Syndrome Type 1","Stickler Syndrome","Mucolipidosis Type 4","X-linked Spinocerebellar Ataxia Type 4","X-linked Spinocerebellar Ataxia Type 3","X-linked Intellectual Disability - Ataxia - Apraxia","X-linked Progressive Cerebellar Ataxia","X-linked Non Progressive Cerebellar Ataxia","X-linked Cerebellar Ataxia","Vitamin B12 Deficiency Ataxia","Toxic Exposure Ataxia","Unclassified Autosomal Dominant Spinocerebellar Ataxia","Thyroid Antibody Ataxia","Sporadic Adult-onset Ataxia of Unknown Etiology","Spinocerebellar Ataxia With Oculomotor Anomaly","Spinocerebellar Ataxia With Epilepsy","Spinocerebellar Ataxia With Axonal Neuropathy Type 2","Spinocerebellar Ataxia Type 8","Spinocerebellar Ataxia Type 7","Spinocerebellar Ataxia Type 6","Spinocerebellar Ataxia Type 5","Spinocerebellar Ataxia Type 4","Spinocerebellar Ataxia Type 37","Spinocerebellar Ataxia Type 36","Spinocerebellar Ataxia Type 35","Spinocerebellar Ataxia Type 34","Spinocerebellar Ataxia Type 32","Spinocerebellar Ataxia Type 31","Spinocerebellar Ataxia Type 30","Spinocerebellar Ataxia Type 3","Spinocerebellar Ataxia Type 29","Spinocerebellar Ataxia Type 28","Spinocerebellar Ataxia Type 27","Spinocerebellar Ataxia Type 26","Spinocerebellar Ataxia Type 25","Spinocerebellar Ataxia Type 23","Spinocerebellar Ataxia Type 22","Spinocerebellar Ataxia Type 21","Spinocerebellar Ataxia Type 20","Spinocerebellar Ataxia Type 2","Spinocerebellar Ataxia Type 19\u002F22","Spinocerebellar Ataxia Type 18","Spinocerebellar Ataxia Type 17","Spinocerebellar Ataxia Type 16","Spinocerebellar Ataxia Type 15\u002F16","Spinocerebellar Ataxia Type 14","Spinocerebellar Ataxia Type 13","Spinocerebellar Ataxia Type 12","Spinocerebellar Ataxia Type 11","Spinocerebellar Ataxia Type 10","Spinocerebellar Ataxia Type 1 With Axonal Neuropathy","Spinocerebellar Ataxia Type 1","Spinocerebellar Ataxia - Unknown","Spinocerebellar Ataxia - Dysmorphism","Non Progressive Epilepsy and\u002For Ataxia With Myoclonus as a Major Feature","Spasticity-ataxia-gait Anomalies Syndrome","Spastic Ataxia With Congenital Miosis","Spastic Ataxia - Corneal Dystrophy","Spastic Ataxia","Rare Hereditary Ataxia","Rare Ataxia","Recessive Mitochondrial Ataxia Syndrome","Progressive Epilepsy and\u002For Ataxia With Myoclonus as a Major Feature","Posterior Column Ataxia - Retinitis Pigmentosa","Post-Stroke Ataxia","Post-Head Injury Ataxia","Post Vaccination Ataxia","Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract","Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus","Non-hereditary Degenerative Ataxia","Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity","Olivopontocerebellar Atrophy - Deafness","NARP Syndrome","Myoclonus - Cerebellar Ataxia - Deafness","Multiple System Atrophy, Parkinsonian Type","Multiple System Atrophy, Cerebellar Type","Multiple System Atrophy","Maternally-inherited Leigh Syndrome","Machado-Joseph Disease Type 3","Machado-Joseph Disease Type 2","Machado-Joseph Disease Type 1","Leigh Syndrome","Late-onset Ataxia With Dementia","Infection or Post Infection Ataxia","GAD Ataxia","Hereditary Episodic Ataxia","Gliadin\u002FGluten Ataxia","Fragile X-associated Tremor\u002FAtaxia Syndrome","Familial Paroxysmal Ataxia","Exposure to Medications Ataxia","Episodic Ataxia With Slurred Speech","Episodic Ataxia Unknown Type","Episodic Ataxia Type 7","Episodic Ataxia Type 6","Episodic Ataxia Type 5","Episodic Ataxia Type 4","Episodic Ataxia Type 3","Episodic Ataxia Type 1","Epilepsy and\u002For Ataxia With Myoclonus as Major Feature","Early-onset Spastic Ataxia-neuropathy Syndrome","Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity","Early-onset Cerebellar Ataxia With Retained Tendon Reflexes","Early-onset Ataxia With Dementia","Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia","Dilated Cardiomyopathy With Ataxia","Cataract - Ataxia - Deafness","Cerebellar Ataxia, Cayman Type","Cerebellar Ataxia With Peripheral Neuropathy","Cerebellar Ataxia - Hypogonadism","Cerebellar Ataxia - Ectodermal Dysplasia","Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss","Brain Tumor Ataxia","Brachydactyly - Nystagmus - Cerebellar Ataxia","Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia","Autosomal Recessive Syndromic Cerebellar Ataxia","Autosomal Recessive Spastic Ataxia With Leukoencephalopathy","Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria","Autosomal Recessive Spastic Ataxia","Autosomal Recessive Metabolic Cerebellar Ataxia","Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine","Autosomal Recessive Ataxia, Beauce Type","Autosomal Recessive Ataxia Due to Ubiquinone Deficiency","Autosomal Recessive Ataxia Due to PEX10 Deficiency","Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia","Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency","Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency","Autosomal Recessive Congenital Cerebellar Ataxia","Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome","Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity","Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency","Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect","Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion","Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation","Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness","Autosomal Recessive Cerebellar Ataxia","Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly","Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation","Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy","Autosomal Dominant Spastic Ataxia Type 1","Autosomal Dominant Spastic Ataxia","Autosomal Dominant Optic Atrophy","Ataxia-telangiectasia Variant","Ataxia-telangiectasia","Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy","Autosomal Dominant Cerebellar Ataxia Type 4","Autosomal Dominant Cerebellar Ataxia Type 3","Autosomal Dominant Cerebellar Ataxia Type 2","Autosomal Dominant Cerebellar Ataxia Type 1","Autosomal Dominant Cerebellar Ataxia","Ataxia-telangiectasia-like Disorder","Ataxia With Vitamin E Deficiency","Ataxia With Dementia","Ataxia - Oculomotor Apraxia Type 1","Ataxia - Other","Ataxia - Genetic Diagnosis - Unknown","Acquired Ataxia","Adult-onset Autosomal Recessive Cerebellar Ataxia","Alcohol Related Ataxia","Multiple Endocrine Neoplasia","Multiple Endocrine Neoplasia Type II","Multiple Endocrine Neoplasia Type 1","Multiple Endocrine Neoplasia Type 2","Multiple Endocrine Neoplasia, Type IV","Multiple Endocrine Neoplasia, Type 3","Multiple Endocrine Neoplasia (MEN) Syndrome","Multiple Endocrine Neoplasia Type 2B","Multiple Endocrine Neoplasia Type 2A","Atypical Hemolytic Uremic Syndrome","Atypical HUS","Wiedemann-Steiner Syndrome","Breast Implant-Associated Anaplastic Large Cell Lymphoma","Autoimmune\u002FInflammatory Syndrome Induced by Adjuvants (ASIA)","Hemophagocytic Lymphohistiocytosis","Behcet's Disease","Alagille Syndrome","Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)","Lowe Syndrome","Pitt Hopkins Syndrome","1p36 Deletion Syndrome","Jansen Type Metaphyseal Chondrodysplasia","Cockayne Syndrome","Chronic Recurrent Multifocal Osteomyelitis","CRMO","Malan Syndrome","Hereditary Sensory and Autonomic Neuropathy Type Ie","VCP Disease","Hypnic Jerking","Sleep Myoclonus","Mollaret Meningitis","Recurrent Viral Meningitis","CRB1","Leber Congenital Amaurosis","Retinitis Pigmentosa","Rare Retinal Disorder","KCNMA1-Channelopathy","Primary Biliary Cirrhosis","ZMYND11","Transient Global Amnesia","Glycogen Storage Disease","Alstrom Syndrome","White Sutton Syndrome","DNM1","EIEE31","Myhre Syndrome","Recurrent Respiratory Papillomatosis","Laryngeal Papillomatosis","Tracheal Papillomatosis","Refsum Disease","Nicolaides Baraitser Syndrome","Leukodystrophy","Tango2","Cauda Equina Syndrome","Rare Gastrointestinal Disorders","Achalasia-Addisonian Syndrome","Achalasia Cardia","Achalasia Icrocephaly Syndrome","Anal Fistula","Congenital Sucrase-Isomaltase Deficiency","Eosinophilic Gastroenteritis","Idiopathic Gastroparesis","Hirschsprung Disease","Rare Inflammatory Bowel Disease","Intestinal Pseudo-Obstruction","Scleroderma","Short Bowel Syndrome","Sacral Agenesis","Sacral Agenesis Syndrome","Caudal Regression","Scheuermann Disease","SMC1A Truncated Mutations (Causing Loss of Gene Function)","Cystinosis","Juvenile Nephropathic Cystinosis","Nephropathic Cystinosis","Kennedy Disease","Spinal Bulbar Muscular Atrophy","Warburg Micro Syndrome","Mucolipidoses","Mitochondrial Diseases","Mitochondrial Aminoacyl-tRNA Synthetases","Mt-aaRS Disorders","Hypertrophic Olivary Degeneration","Non-Ketotic Hyperglycinemia","Fish Odor Syndrome","Halitosis","Isolated Congenital Asplenia","Lambert Eaton (LEMS)","Biliary Atresia","STAG1 Gene Mutation","Coffin Lowry Syndrome","Borjeson-Forssman-Lehman Syndrome","Blau Syndrome","Arginase 1 Deficiency","HSPB8 Myopathy","Beta-Mannosidosis","TBX4 Syndrome","DHDDS Gene Mutations","MAND-MBD5-Associated Neurodevelopmental Disorder","Constitutional Mismatch Repair Deficiency (CMMRD)","SPATA5 Disorder","SPATA5L1 Related Disorder","Acrodysostosis","Multi-systematic Smooth Muscle Dysfunction Syndrome","CRELD1 (Cysteine Rich With EGF Like Domains 1)","GNB1 Syndrome","Pyruvate Dehydrogenase Complex Deficiency Disease","Beta Mannosidosis","Kbg Syndrome","Labrune Syndrome","Metachromatic Leukodystrophy (MLD)","Moyamoya Disease","OPHN1 Syndrome","Oculopharyngeal Muscular Dystrophy (OPMD)","TUBB3 Mutation","WOREE (WWOX-related Epileptic Encephalopathy","SCAR12","Skraban-Deardorff Syndrome","Hereditary Myopathy With Early Respiratory Failure",[621,622,623,624,625,332,184,626,339,627,298,628,629,630,501,510,631,632,289,633,634,297,635,299,636,288,637,638,513,639,640,516,517,641,519,520,642,643,523,644,645,646,573,647,648,649,650,651,652,653,578,654,655,656,583,584,657,658,659,660,661],"Rare Diseases","Neglected Diseases","Orphan Diseases","Rare Disease Research","Registries","Cornelia de Lange Syndrome","Ataxia Telangiectasia","Batten Disease","Mucolipidosis IV","Klippel-Feil Syndrome","Undiagnosed","Uncommon Disease","Hypersomnia","Hyperacusis","Marinesco-Sjogren Syndrome","4p-\u002FWolf-Hirschhorn Syndrome","Narcolepsy","Wiedermann-Steiner Syndrome","Autoimmune\u002Finflammatory Syndrome Induced by Adjuvants (ASIA)","Hemophagocytic Lymphohistiocytosis (HLH)","Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)","1p36 deletion syndrome","Jansen metaphyseal chondrodysplasia","Chronic recurrent multifocal osteomyelitis (CRMO)","Malan syndrome","Hereditary Sensory and Autonomic Neuropathy","Juvenile nephropathic cystinosis","Nephropathic infantile cystinosis","Ocular cystinosis","Kennedy disease","Spinal Bulbar Muscular Atrophy (SBMA)","SMC1A Truncated Mutations (causing loss of gene function)","Leigh syndrome","Mucolipidosis","Mitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders)","Shine Syndrome","Intestinal Bromhidrosis Syndrome","Fish odor syndrome","Autosomal recessive extra oral halitosis","CACNA1H mutation","Dimethylglycine dehydrogenase deficiency","2025-05-22",{"date":664,"type":33},"2025-05-29",{"date":666,"type":33},"2010-07",{"date":668,"type":22},"2100-12",{"name":670,"class":115},"Sanford Health",2,{"id":673,"slug":674,"hasResults":11,"nctId":675,"briefTitle":676,"officialTitle":677,"acronym":4,"eligibilityCriteria":678,"healthyVolunteers":11,"sex":17,"minAge":204,"maxAge":679,"enrollmentInfo":680,"targetDuration":4,"studyType":23,"phases":681,"briefSummary":682,"conditions":683,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":684,"lastUpdatePostDateStruct":685,"startDateStruct":687,"completionDateStruct":689,"leadSponsor":691,"locationsCount":693},"100583260","phase-1-a-multiple-ascending-dose-study-of-dt-216p2-in-patients-with-friedreichs-ataxia-100583260","NCT06874010","A Multiple Ascending Dose Study of DT-216P2 in Patients With Friedreich's Ataxia","A Phase 1\u002F2, Open-Label, Multiple Ascending Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of Subcutaneous and Intravenous DT-216P2 in Patients With Friedreich's Ataxia","Inclusion Criteria:\n\n* Participants must be 18-65 years of age inclusive, at the time of signing the informed consent.\n* Genetically confirmed diagnosis of FA, with homozygous GAA repeat expansions in the frataxin gene.\n* Stage 5.5 or less on the FSA at screening.\n* BMI between 16 and 32 kg\u002Fm2 at screening; weight should be \\\u003C= 100 kg at screening.\n* Male and\u002For female using protocol defined and regulatory approved contraception.\n* Capable of giving signed informed consent.\n\nExclusion Criteria:\n\n* Any concomitant medical condition that in the opinion of the investigator, puts the participant at risk or precludes participant from completing the study protocol.\n* Any clinically significant nonmedical conditions and psychiatric disorders that could put the participant at higher risk for participation in the study, influence the participant's ability to participate in the study, or interfere with interpretation of the participant's study results, in the opinion of the investigator.\n* Received an investigational agent within the last 30 days or 5 half-lives, whichever longer, prior to the first dose of study drug, or are in follow-up of another clinical study prior to study enrollment. Exception: Potential participants who are currently on Omaveloxolone must be on stable doses for at least 3 months.\n* Is not willing to comply with the contraceptive requirements during the study period, as per protocol.","65 Years",{"count":226,"type":22},[177,81],"The purpose of this study is to evaluate the safety and tolerability, and pharmacokinetics of DT-216P2 administered multiple ascending doses in patients with FA.",[28],"2025-05-14",{"date":686,"type":33},"2025-05-18",{"date":688,"type":22},"2025-06",{"date":690,"type":22},"2027-03",{"name":692,"class":40},"Design Therapeutics, Inc.",3,{"id":695,"slug":696,"hasResults":11,"nctId":697,"briefTitle":698,"officialTitle":698,"acronym":699,"eligibilityCriteria":700,"healthyVolunteers":244,"sex":17,"minAge":701,"maxAge":4,"enrollmentInfo":702,"targetDuration":4,"studyType":52,"phases":4,"briefSummary":704,"conditions":705,"keywords":706,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":708,"lastUpdatePostDateStruct":709,"startDateStruct":711,"completionDateStruct":713,"leadSponsor":715,"locationsCount":116},"100506438","characterisation-of-the-cognitive-profile-of-patients-suffering-from-friedreichs-ataxia-100506438","NCT05874388","Characterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia","CPCAF","Inclusion Criteria:\n\n* Patient group :\n\nPatients aged 13 years or older Patients with FA confirmed by genetic study Compliant patients willing to undergo all tests Enrolled in a social security scheme or beneficiary of such a scheme\n\nControl group :\n\nSubjects aged 13 years or older Genetic characterisation to exclude the presence of alterations in the FXN gene No motor or cognitive impairment Compliant subjects willing to undergo all tests Membership in a social security scheme or beneficiary of such a scheme\n\nExclusion Criteria:\n\n* Patient group :\n\nOptic atrophy or decreased visual acuity Opposition of the patient, or of his parents if the patient is a minor, to participation in the study Non compliant patient according to the Investigator's opinion Person subject to a legal protection measure\n\nControl group :\n\nAlteration in the frataxin gene Optic atrophy or decreased visual acuity Opposition of the patient, or of his parents if the patient is a minor, to participation in the study Non-compliant patient in the opinion of the Investigator Person subject to a legal protection measure","13 Years",{"count":703,"type":22},70,"Friedreich's Ataxia (FA) Friedreich's Ataxia is a neurodegenerative disease caused by a homozygous expansion of the GAA triplet repeats of the frataxin gene (FXN). FA usually begins in childhood or adolescence. It affects both boys and girls. At the neurophysiological level, FA is characterised by neuronal loss affecting the dorsal root ganglia, spinal cord and cerebellum. At present, daily exercise is the only way to combat the disease. There is no cure for Friedreich's ataxia. Clinically, FA mainly combines balance, movement coordination, articulation (dysarthria) with cardiac involvement and sometimes diabetes . After a few years of evolution, walking is no longer possible. Recent data ; also indicate disturbances in information processing and cognitive functioning. In short, FA involves adolescents who progressively lose walking, writing and speech for some; however, each patient progresses differently with respect to the disease, and this is the case with respect to motor and cognitive symptoms.",[28],[707],"FRATAXINE","2025-05-02",{"date":710,"type":33},"2025-05-07",{"date":712,"type":33},"2023-06-19",{"date":714,"type":22},"2026-06",{"name":716,"class":717},"Institut National de la Santé Et de la Recherche Médicale, France","OTHER_GOV",{"id":719,"slug":720,"hasResults":11,"nctId":721,"briefTitle":722,"officialTitle":723,"acronym":4,"eligibilityCriteria":724,"healthyVolunteers":11,"sex":17,"minAge":725,"maxAge":4,"enrollmentInfo":726,"targetDuration":4,"studyType":23,"phases":728,"briefSummary":730,"conditions":731,"keywords":732,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":746,"lastUpdatePostDateStruct":747,"startDateStruct":748,"completionDateStruct":750,"leadSponsor":752,"locationsCount":116},"100569288","efficacy-of-stabilometric-platform-to-improve-standing-balance-in-patients-with-friedreichs-ataxia-100569288","NCT06692296","Efficacy of Stabilometric Platform to Improve Standing Balance in Patients With Friedreich's Ataxia","Studio Pilota Sull'Efficacia Della Pedana Stabilometrica Nel Trattamento Del Paziente Con Atassia di Friedreich","Inclusion Criteria:\n\n* Age ≥ 14 years;\n* Weight \\\u003C 150 kg;\n* Genetic diagnosis of Friedreich's Ataxia;\n* Subscores of SARA (Scale for the Assessment and Rating of Ataxia) as follows: (1) from 1 to 6 for the item 'Gait (walking ability)'; (2) from 1 to 3 for the item 'Stance (ability to maintain a stable posture)'; (3) ability to walk ≥10 metres with or without walking aids; (4) ability to stand unsupported; Stadiation of the Friedreich Ataxia Rating Scale between 2 and 4.\n\nExclusion Criteria:\n\n* Age \\\u003C 14 years;\n* Diagnosis of acquired ataxia;\n* Subscores for items on the SARA scale of: (1) 0 or 7 for gait; (2) 0 or 4-6 for stance;\n* Inability to walk;\n* Ability to walk \\\u003C 10 meters;\n* Standing position possible only with support;\n* Other associated neurological conditions;\n* Current major psychiatric disorder (psychosis and major depression).","14 Years",{"count":727,"type":22},24,[729],"NA","The primary objective is to evaluate the potential effectiveness of an individualized intensive rehabilitation intervention using the \"Prokin 252\" stabilometric platform in the treatment of adolescent and adult patients with Friedreich's Ataxia. The secondary objective is to assess the retention of the rehabilitation treatment effects over time.\n\nEnrolled patients will be randomized and assigned to one of two treatment groups for four weeks. Three assessments will be conducted for each patient: one before treatment (T0), one at the end of treatment (T1), and a follow-up assessment 90 days after T1 via telemedicine (T2).\n\nThis study is:\n\n* Exploratory: The study aims to explore the usefulness of the stabilometric platform in a rehabilitative setting in combination with conventional therapy;\n* Not \"first-in-human\";\n* Longitudinal: The study will investigate changes over time in motor and functional ability scales, as well as stabilometric platform parameters, within the same cohort;\n* Randomized, controlled, open-label;\n* Monocentric: The study will be conducted only at the \"La Nostra Famiglia\" Association in Conegliano and Pieve di Soligo - IRCCS Eugenio Medea in Conegliano - UOC Neuromotor Rehabilitation in Pieve di Soligo, Via Monte Grappa, 96, 31053 Pieve di Soligo TV;\n* Prospective;\n* Post-market.",[28],[733,28,734,735,736,737,738,739,740,741,742,743,744,745],"randomized controlled trial","balance","rehabilitation","training","stabilometric platform","ataxia","therapeutic exercise","standing balance","Scale for the assessment and rating of ataxia","six minute walking test","functional reach test","timed up and go","Friedreich ataxia rating scale","2025-04-29",{"date":708,"type":33},{"date":749,"type":33},"2025-02-03",{"date":751,"type":22},"2027-12",{"name":753,"class":115},"IRCCS Eugenio Medea",{"id":755,"slug":756,"hasResults":11,"nctId":757,"briefTitle":758,"officialTitle":759,"acronym":4,"eligibilityCriteria":760,"healthyVolunteers":244,"sex":17,"minAge":204,"maxAge":761,"enrollmentInfo":762,"targetDuration":4,"studyType":23,"phases":764,"briefSummary":765,"conditions":766,"keywords":4,"overallStatus":767,"whyStopped":4,"lastUpdateSubmitDate":768,"lastUpdatePostDateStruct":769,"startDateStruct":771,"completionDateStruct":773,"leadSponsor":775,"locationsCount":116},"100575483","phase-1-a-single-ascending-dose-study-of-dt-216p2-in-normal-healthy-participants-100575483","NCT06772870","A Single Ascending Dose Study of DT-216P2 in Normal Healthy Participants","A Phase 1, Double-Masked, Randomized, Placebo-Controlled, Single Ascending Dose Crossover Study to Assess the Safety, Tolerability, and Pharmacokinetics of Subcutaneous and Intravenous DT-216P2 in Normal Healthy Participants","Inclusion Criteria:\n\n* Participants must be 18-45 years of age inclusive, at the time of signing the informed consent.\n* Participants who are overtly healthy as determined by medical evaluation including medical history, physical examination, laboratory tests, and ECG.\n* Agree to abstain from strenuous physical activity outside of daily norm, until end of study.\n* Body mass index between 16 and 32 kg\u002Fm2 (inclusive) at screening; weight should be \\\u003C= 100 kg at screening.\n* Male and\u002For female using protocol defined and regulatory approved contraception.\n* Capable of giving signed informed consent.\n\nExclusion Criteria:\n\n* Any concomitant medical condition that in the opinion of the investigator, puts the participant at risk or precludes participant from completing the study protocol.\n* Any clinically significant nonmedical conditions and psychiatric disorders that could put the participant at higher risk for participation in the study, influence the participant's ability to participate in the study, or interfere with interpretation of the participant's study results, in the opinion of the investigator.\n* Is not willing to comply with the contraceptive requirements during the study period, as per protocol.","45 Years",{"count":763,"type":22},36,[177],"This purpose of the study is to evaluate the safety, tolerability and pharmacokinetics of single ascending doses of DT-216P2 administered either subcutaneously (SC) and intravenously (IV) in normal healthy participants. Approximately 36 participants will be enrolled into this study.",[28],"NOT_YET_RECRUITING","2025-02-20",{"date":770,"type":33},"2025-02-21",{"date":772,"type":22},"2025-02",{"date":774,"type":22},"2025-12",{"name":692,"class":40}]