{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T18:33:27Z","timestamp":1781807607827,"version":"3.54.5"},"reference-count":50,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,12,15]],"date-time":"2024-12-15T00:00:00Z","timestamp":1734220800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Limb\u2010girdle muscular dystrophy R9 (LGMDR9, formerly known as LGMD2I), caused by variants in the fukutin\u2010related protein (FKRP) gene leads to progressive muscle weakness of the shoulder and pelvic limb\u2010girdles and loss of motor function over time. Clinical management and future trial design are improved by determining which standardized clinical outcome assessments (COA) of function are most appropriate to capture disease presentation and progression, informing endpoint selection and enrollment criteria. The purpose of our study was to evaluate the cross\u2010sectional validity and reliability of clinical outcome assessments in patients with FKRP\u2010related LGMDR9 participating in the Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP) natural history study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Enrolled patients completed a battery of COA on two consecutive days, including the North Star Assessment for limb girdle\u2010type dystrophies (NSAD), the 100\u2010m timed test (100\u2009m), and the Performance of Upper Limb 2.0 (PUL).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 101 patients with FKRP\u2010related LGMDR9 completed COA evaluations. All functional COA were highly and significantly correlated even across constructs, except for the 9\u2010hole peg test. Similarly, all tests demonstrated excellent test\u2013retest reliability across 2\u2010day visits. The NSAD and PUL demonstrate robust psychometrics with good targeting, ordered response thresholds, fit and stability, and limited dependency of items across the scales.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study has determined the suitability of several functional COA, cross\u2010sectionally, in LGMDR9 to inform future trial design and clinical care.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.52276","type":"journal-article","created":{"date-parts":[[2024,12,15]],"date-time":"2024-12-15T18:51:21Z","timestamp":1734288681000},"page":"332-344","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Prospective observational study of <scp>FKRP<\/scp>\u2010related limb\u2010girdle muscular dystrophy <scp>R9<\/scp>: A <scp>GRASP<\/scp> consortium study"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2263-7569","authenticated-orcid":false,"given":"Lindsay N.","family":"Alfano","sequence":"first","affiliation":[{"name":"Center for Biobehavioral Health The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pediatrics The Ohio State University College of Medicine  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meredith K.","family":"James","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre Newcastle upon Tyne Hospitals NHS Trust and Newcastle University  Newcastle Upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristine","family":"Grosfjeld Petersen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Rudolf","sequence":"additional","affiliation":[{"name":"Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6144-8544","authenticated-orcid":false,"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renee","family":"Augsburger","sequence":"additional","affiliation":[{"name":"Department of Neurology University of California  Irvine California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tahseen","family":"Mozaffar","sequence":"additional","affiliation":[{"name":"Department of Neurology University of California  Irvine California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aileen","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Neurology Virginia Commonwealth University  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Butler","sequence":"additional","affiliation":[{"name":"Department of Neurology Virginia Commonwealth University  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie M.","family":"Laubscher","sequence":"additional","affiliation":[{"name":"Center for Disabilities and Development University of Iowa Health Care Stead Family Children's Hospital  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shelley R. H.","family":"Mockler","sequence":"additional","affiliation":[{"name":"Center for Disabilities and Development University of Iowa Health Care Stead Family Children's Hospital  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine D.","family":"Mathews","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Iowa  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan A.","family":"Iammarino","sequence":"additional","affiliation":[{"name":"Center for Biobehavioral Health The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie F.","family":"Reash","sequence":"additional","affiliation":[{"name":"Center for Biobehavioral Health The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay","family":"Pietruszewski","sequence":"additional","affiliation":[{"name":"Center for Biobehavioral Health The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda P.","family":"Lowes","sequence":"additional","affiliation":[{"name":"Center for Biobehavioral Health The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pediatrics The Ohio State University College of Medicine  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Talia","family":"Strahler","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Colorado School of Medicine  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Wicklund","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Colorado School of Medicine  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Hunn","sequence":"additional","affiliation":[{"name":"Department of Neurology Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conrad C.","family":"Weihl","sequence":"additional","affiliation":[{"name":"Department of Neurology Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandhya","family":"Sasidharan","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Kansas Medical Center  Kansas City Kansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Currence","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Kansas Medical Center  Kansas City Kansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey M.","family":"Statland","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Kansas Medical Center  Kansas City Kansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikia","family":"Stinson","sequence":"additional","affiliation":[{"name":"Center for Genetic Muscle Disorders Kennedy Krieger Institute  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Holzer","sequence":"additional","affiliation":[{"name":"Center for Genetic Muscle Disorders Kennedy Krieger Institute  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2558-7798","authenticated-orcid":false,"given":"Doris G.","family":"Leung","sequence":"additional","affiliation":[{"name":"Center for Genetic Muscle Disorders Kennedy Krieger Institute  Baltimore Maryland USA"},{"name":"Department of Neurology Johns Hopkins Medicine  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donovan J.","family":"Lott","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy University of Florida  Gainesville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4270-7325","authenticated-orcid":false,"given":"Peter B.","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Florida  Gainesville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Holsten","sequence":"additional","affiliation":[{"name":"Department of Neurology Atrium Health  Charlotte North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Urvi","family":"Desai","sequence":"additional","affiliation":[{"name":"Department of Neurology Atrium Health  Charlotte North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas E.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Neurology Virginia Commonwealth University  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the GRASP\u2010LGMD Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,15]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10559"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000058902.88181.3D"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2252"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.08.012"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2022.11.005"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.jnen.0000235854.77716.6c"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20824"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000010604"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51042"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.08.013"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27052"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20283"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-023-11978-7"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-221629"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2023.05.005"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtm.2023.05.022"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx066"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27259"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtm.2018.10.004"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0278482"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2013.156"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-210741"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.02.007"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880060204"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/ptj\/pzac113"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12213"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.11.014"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1532-5415.1991.tb01616.x"},{"key":"e_1_2_10_30_1","unstructured":"SharplessJW Mossman'sA.Problem Oriented Approach to Stroke Rehabilitation. The Nine\u2010Hole Peg Test of Finger Hand Coordination for the Hemiplegic Patient.1982."},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jclinepi.2010.04.011"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mlr.0000258615.42478.55"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0274(199606)29:6<602::AID-AJIM4>3.0.CO;2-L"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.11.002"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11136-010-9694-5"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.02.013"},{"key":"e_1_2_10_37_1","unstructured":"RaschG.Probabilistic Models for some Intelligence and Attainment Tests.1960."},{"key":"e_1_2_10_38_1","unstructured":"Rumm Pty Ltd. Rumm 2030+.https:\/\/www.rummlab.com.au\/"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:SOCI.0000025593.97559.7f"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291700012502"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02289113"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70290-9"},{"key":"e_1_2_10_43_1","volume-title":"Rating Scale Analysis","author":"Wright BDM","year":"1982"},{"key":"e_1_2_10_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00421-020-04325-5"},{"key":"e_1_2_10_45_1","doi-asserted-by":"publisher","DOI":"10.1123\/japa.2013-0236"},{"key":"e_1_2_10_46_1","doi-asserted-by":"publisher","DOI":"10.1080\/16501970500478023"},{"key":"e_1_2_10_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.apmr.2013.02.020"},{"key":"e_1_2_10_48_1","doi-asserted-by":"publisher","DOI":"10.1093\/ptj\/80.9.896"},{"key":"e_1_2_10_49_1","doi-asserted-by":"publisher","DOI":"10.3233\/VES-2004-14506"},{"issue":"5","key":"e_1_2_10_50_1","first-page":"24","article-title":"Adult norms for the nine hole peg test of finger dexterity","volume":"1","author":"Mathiowetz V","year":"1985","journal-title":"OJTR"},{"key":"e_1_2_10_51_1","doi-asserted-by":"publisher","DOI":"10.5014\/ajot.57.5.570"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.52276","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T12:07:02Z","timestamp":1746187622000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.52276"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,15]]},"references-count":50,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1002\/acn3.52276"],"URL":"https:\/\/doi.org\/10.1002\/acn3.52276","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,15]]},"assertion":[{"value":"2024-11-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}