{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:31:51Z","timestamp":1753860711228,"version":"3.41.2"},"reference-count":38,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T00:00:00Z","timestamp":1745798400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Valosin\u2010containing protein (VCP)\u2010associated multisystem proteinopathy 1 (MSP1) is caused by variants in the <jats:italic>VCP<\/jats:italic> gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others. Our study aimed to validate functional clinical outcome assessments (COA) and patient\u2010reported outcomes (PRO) to inform clinical care practices and future clinical trial design. In addition, we evaluated the test\u2013retest reliability of these COAs within clinics and remote environments.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Patients completed a battery of COA and PRO across a 2\u2010day traditional onsite visit and a 2\u2010day remote visit within their home environment. All COA and PRO deemed safe and feasible to complete based on participants' level of function and\/or home environment were collected at each visit.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Forty\u2010six total patients enrolled in our study, 34 in our full study and 12 in an expanded remote\u2010only cohort. Functional COA measured decline over reported disease duration in this cross\u2010sectional group and significantly correlated with PRO (rho\u2009&gt;\u20090.5, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001). Differences in lower and upper extremity involvement were noted across variant groups. Performance of functional COA was reliable and safe within and across onsite and remote testing environments (ICC\u2009&gt;\u20090.7, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Functional COA and PRO are valid and reliable to measure abilities in participants with MSP1. Testing can be completed reliably within the home, which could expand equitable access to clinical care and\/or future clinical trial participation. Prospective longitudinal data collection is ongoing to understand outcome sensitivity and meaningful change over time.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.70064","type":"journal-article","created":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T13:54:31Z","timestamp":1745848471000},"page":"1324-1333","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Validity and Reliability of Clinical and Patient\u2010Reported Outcomes in Multisystem Proteinopathy 1"],"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":"Jerry R. Mendell Center for Gene Therapy 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":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan A.","family":"Iammarino","sequence":"additional","affiliation":[{"name":"Jerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalie F.","family":"Reash","sequence":"additional","affiliation":[{"name":"Jerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda P.","family":"Lowes","sequence":"additional","affiliation":[{"name":"Jerry R. Mendell Center for Gene Therapy 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":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lindsay","family":"Pietruszewski","sequence":"additional","affiliation":[{"name":"Jerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen","family":"Adderley","sequence":"additional","affiliation":[{"name":"Jerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Humphrey","sequence":"additional","affiliation":[{"name":"Jerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Audrey B.","family":"Knight","sequence":"additional","affiliation":[{"name":"Jerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher L.","family":"Steiner","sequence":"additional","affiliation":[{"name":"Jerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa A.","family":"Smith","sequence":"additional","affiliation":[{"name":"Jerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zarife","family":"Sahenk","sequence":"additional","affiliation":[{"name":"Jerry R. Mendell Center for Gene Therapy 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"},{"name":"Department of Neurology The Ohio State University College of Medicine  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne M.","family":"Connolly","sequence":"additional","affiliation":[{"name":"Jerry R. Mendell Center for Gene Therapy 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"},{"name":"Department of Neurology The Ohio State University College of Medicine  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Momen","family":"Almomen","sequence":"additional","affiliation":[{"name":"Jerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora S.","family":"D'Ambrosio","sequence":"additional","affiliation":[{"name":"Jerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Neurology UMass Chan Medical School  Worcester Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathan","family":"Peck","sequence":"additional","affiliation":[{"name":"Cure VCP Disease  Warner Robins Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allison","family":"Peck","sequence":"additional","affiliation":[{"name":"Cure VCP Disease  Warner Robins Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010022\u201002172\u20105"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1332"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.01.009"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010023\u201011862\u20104"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp\u20102022\u2010328921"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2020.115465"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035\u2010023\u201003509\u20102"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000001184"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI169039"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaa248"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.02.007"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14230"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880060204"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/ptj\/pzac113"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.23172"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12213"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.11.014"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1532\u20105415.1991.tb01616.x"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00080312"},{"key":"e_1_2_9_21_1","first-page":"420","volume-title":"Mossman's A Problem Oriented Approach to Stroke Rehabilitation","author":"Sharpless J.","year":"1982"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.735936"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1044\/1092\u20104388(2012\/12\u20100140)"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348940811701210"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jclinepi.2010.04.011"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1044\/2020_AJSLP\u201020\u201000236"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2019.4490"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20958"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11136\u2010010\u20109694\u20105"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2023.02.011"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.735538"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1080\/16501970500478023"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.apmr.2013.02.020"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1093\/ptj\/80.9.896"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.3233\/VES-2004-14506"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474\u20104422(18)30025\u20105"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200708\u20101248OC"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1080\/17482960601030188"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200191"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.70064","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,14]],"date-time":"2025-07-14T10:22:02Z","timestamp":1752488522000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.70064"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,28]]},"references-count":38,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1002\/acn3.70064"],"URL":"https:\/\/doi.org\/10.1002\/acn3.70064","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"type":"print","value":"2328-9503"},{"type":"electronic","value":"2328-9503"}],"subject":[],"published":{"date-parts":[[2025,4,28]]},"assertion":[{"value":"2025-03-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}