{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T14:14:56Z","timestamp":1790604896812,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,3,31]],"date-time":"2024-03-31T00:00:00Z","timestamp":1711843200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100002108","name":"Friedreich's Ataxia Research Alliance","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000038","name":"U.S. Food and Drug Administration","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000038","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Friedreich ataxia (FRDA) is a rare genetic disorder caused by mutations in the <jats:italic>FXN<\/jats:italic> gene, leading to progressive coordination loss and other symptoms. The recently approved omaveloxolone targets this condition but is limited to patients over 16\u2009years of age, highlighting the need for pediatric treatments due to the disorder's early onset and more rapid progression in children. This population also experiences increased non\u2010neurological complications; the FACHILD study aimed to augment and expand the knowledge about the natural history of the disease and clinical outcome assessments for trials in children in FRDA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study enrolled 108 individuals aged 7\u201318\u2009years with a confirmed FRDA diagnosis, with visits occurring from October 2017 to November 2022 across three institutions. Several measures were introduced to minimize the impact of the COVID\u201019 pandemic, including virtual visits. Outcome measures centered on the mFARS score and its subscores, and data were analyzed using mixed models for repeated measures. For context and to avoid misinterpretation, the analysis was augmented with data from patients enrolled in the Friedreich's Ataxia Clinical Outcome Measures Study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Results confirmed the general usefulness of the mFARS score in children, but also highlighted issues, particularly with the upper limb subscore (FARS B). Increased variability, limited homogeneity across study subgroups, and potential training effects might limit mFARS application in clinical trials in pediatric populations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>The FARS E (Upright Stability) score might be a preferred outcome measure in this patient population.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.52057","type":"journal-article","created":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T06:30:20Z","timestamp":1711953020000},"page":"1290-1300","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Evaluating <scp>mFARS<\/scp> in pediatric Friedreich's ataxia: Insights from the <scp>FACHILD<\/scp> study"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4911-911X","authenticated-orcid":false,"given":"Christian","family":"Rummey","sequence":"first","affiliation":[{"name":"Clinical Data Science GmbH  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Perlman","sequence":"additional","affiliation":[{"name":"Department of Neurology University of California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8052-9240","authenticated-orcid":false,"given":"Sub. H.","family":"Subramony","sequence":"additional","affiliation":[{"name":"Department of Neurology Fixel Center for Neurological Disorders  3009, SW Williston Road Gainesville Florida 32608 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Farmer","sequence":"additional","affiliation":[{"name":"Friedreich's Ataxia Research Alliance  Downingtown Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7168-214X","authenticated-orcid":false,"given":"David R.","family":"Lynch","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Neurology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,3,31]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311\u2010023\u201001568\u20108"},{"key":"e_1_2_10_3_1","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1038\/d41573-023-00041-9","article-title":"FDA approves first Friedreich's ataxia drug","volume":"22","author":"Mullard A","year":"2023","journal-title":"Nat Rev Drug Discov"},{"key":"e_1_2_10_4_1","unstructured":"The FA Clinical Outcome Measures Study (FA\u2010COMS). ClinicalTrials.gov.https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03090789"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000200913"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474\u20104422(21)00027\u20102"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.18637\/jss.v067.i01"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531\u20108249(199902)45:2<200::aid\u2010ana10>3.0.co;2\u2010u"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25934"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29286"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.168"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.731"},{"key":"e_1_2_10_13_1","unstructured":"TandonV.FDA Clinical Review of SKYCLARYS (Omaveloxolone).2017.https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/nda\/2023\/216718Orig1s000MedR.pdf"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1080\/21678707.2018.1449638"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eclinm.2019.11.006"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13507"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.52057","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,14]],"date-time":"2024-05-14T16:42:48Z","timestamp":1715704968000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.52057"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,31]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1002\/acn3.52057"],"URL":"https:\/\/doi.org\/10.1002\/acn3.52057","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,31]]},"assertion":[{"value":"2023-10-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}