[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT07635030":3,"trial-entities:NCT07635030":85,"trial-summary:NCT07635030":90},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":21,"study_type":23,"primary_purpose":17,"phases":24,"enrollment_info":25,"interventions":28,"primary_outcomes":35,"secondary_outcomes":49,"sex":50,"minimum_age":51,"maximum_age":52,"healthy_volunteers":15,"eligibility_criteria":53,"std_ages":69,"locations":71,"central_contacts":81,"overall_officials":82,"references":83,"see_also_links":84},"NCT07635030","IRB 23-021822","GABA and GSH in FRDA","Magnetic Resonance Spectroscopy (MRS) Estimates of Glutathione (GSH) and GABA as Biomarkers of Pathophysiology in FRDA","ENROLLING_BY_INVITATION","2030-06","2026-06","2026-06-09","2024-05-08","Children's Hospital of Philadelphia","OTHER",false,"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:\n\nA. 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)\n\nFRDA participants will be asked to complete an MRS scan at 3 timepoints in order to observe GABA and GSH activity.",null,[19,20],"Friedreich's Ataxia","FRDA",[22],"FA","OBSERVATIONAL",[],{"count":26,"type":27},60,"ESTIMATED",[29],{"type":14,"name":30,"description":31,"armGroupLabels":32},"MRI\u002F MRS (Magnetic Resonance Imaging \u002FMagnetic Resonance Spectroscopy)","Subjects will undergo an MRI scan wherein the investigator will use a published, but recently developed, MRS protocol (HERMES) for simultaneous assessment of GABA and glutathione (GSH) in a single scan using a 3T MR scanner",[33,34],"Children with Friedreich's Ataxia (FRDA)","Control",[36,40,43,46],{"measure":37,"description":38,"timeFrame":39},"GABA Assessment","The primary study outcome measure will be obtaining gamma-aminobutyric acid (GABA) assessment derived from magnetic resonance spectroscopy (MRS) recording, to be used as a potential biomarker in patients with FRDA prior to and after taking Omaveloxolone.","3 years",{"measure":41,"description":42,"timeFrame":39},"Changes in NAA","Changes in MRS metabolite levels, including N-acetyl-aspartate (NAA)will be assessed in FRDA participants.",{"measure":44,"description":45,"timeFrame":39},"GSH Assessment","The primary study outcome measure will be obtaining glutathione (GSH) assessment derived from magnetic resonance spectroscopy (MRS) recording, to be used as a potential biomarker in patients with FRDA prior to and after taking Omaveloxolone.",{"measure":47,"description":48,"timeFrame":39},"Changes in MRS metabolite levels (Changes in ml)","Changes in MRS metabolite levels, including myo-inositol (mI) will be assessed in FRDA patients.",[],"ALL","8 Years","16 Years",{"inclusion":54,"exclusion":59,"raw_text":68},[55,56,57,58],"Age ≥ 8 years; \\\u003C16 years","Written informed consent provided","Balletic Guanine-adenine-adenine (GAA) trinucleotide repeat length \\> 55 in intron 1 of Frataxin (FXN) and\u002For GAA repeat length \\> 55 in intron 1 of FXN in one allele and another type of mutation that is inferred to cause loss of function in the second FXN allele as documented in the medical record","Friedreich's Ataxia Rating Scale (FARS) Functional staging score of ≤ 5\\^ and total modified Friedreich's Ataxia Rating Scale (mFARS) score of ≤ 65 on enrolment",[60,61,62,63,64,65,66,67],"Age \\\u003C 8 years \\> 16 years","Acute or ongoing medical or other conditions that is deemed to interfere with the conduct and assessments of the study","Other psychiatric or neurologic conditions apart from FRDA that, in the opinion of the Site Investigator, would interfere with the conduct and assessments of the study","MR contraindications (e.g., pacemaker or other metallic surgical implants)","Presence of metallic dental braces","Currently pregnant participants","Confined to wheelchair or bed with total dependency for all activities of daily living. Total disability.","Unable to understand English instruction","Inclusion Criteria:\n\n* Age ≥ 8 years; \\\u003C16 years\n* Written informed consent provided\n* Balletic Guanine-adenine-adenine (GAA) trinucleotide repeat length \\> 55 in intron 1 of Frataxin (FXN) and\u002For GAA repeat length \\> 55 in intron 1 of FXN in one allele and another type of mutation that is inferred to cause loss of function in the second FXN allele as documented in the medical record\n* Friedreich's Ataxia Rating Scale (FARS) Functional staging score of ≤ 5\\^ and total modified Friedreich's Ataxia Rating Scale (mFARS) score of ≤ 65 on enrolment\n\nExclusion Criteria:\n\n* Age \\\u003C 8 years \\> 16 years\n* Acute or ongoing medical or other conditions that is deemed to interfere with the conduct and assessments of the study\n* Other psychiatric or neurologic conditions apart from FRDA that, in the opinion of the Site Investigator, would interfere with the conduct and assessments of the study\n* MR contraindications (e.g., pacemaker or other metallic surgical implants)\n* Presence of metallic dental braces\n* Currently pregnant participants\n* Confined to wheelchair or bed with total dependency for all activities of daily living. Total disability.\n* Unable to understand English instruction",[70],"CHILD",[72],{"facility":73,"city":74,"state":75,"zip":76,"country":77,"geoPoint":78},"The Children's Hospital of Philadelphia","Philadelphia","Pennsylvania","19104","United States",{"lat":79,"lon":80},39.95238,-75.16362,[],[],[],[],{"nct_id":4,"conditions":86,"biomarkers":88},[87],"Friedreich Ataxia",[89],"Frataxin, Mitochondrial",{"nct_id":4,"found":15,"summary":17,"prompt_version":17}]