{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:13:31Z","timestamp":1787015611812,"version":"build-2736575974"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,10,10]],"date-time":"2024-10-10T00:00:00Z","timestamp":1728518400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["#NIH 1U01 NS109403"],"award-info":[{"award-number":["#NIH 1U01 NS109403"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Aims<\/jats:title>\n                    <jats:p>The Charcot\u2013Marie\u2013Tooth Disease Health Index (CMT\u2010HI) is a disease\u2010specific, patient\u2010reported disease burden measure. As part of an international clinical trial readiness study, individuals with CMT1A (ages 18\u201375\u2009years) underwent clinical outcome assessments (COAs), including the CMT\u2010HI, to capture their longitudinal perspective on the disease burden.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Two hundred and fifteen participants underwent serial COAs including the CMT\u2010HI, CMT Functional Outcome Measure (CMT\u2010FOM), CMT Neuropathy Score (CMTNSv2R), and CMT Exam Score (CMTES\/CMTES\u2010R). Correlations between the total and subscale scores for the CMT\u2010HI and other COAs were determined. Changes in the CMT\u2010HI scores over 12\u2009months were assessed using paired\n                      <jats:italic>t<\/jats:italic>\n                      \u2010tests. The minimum clinically important difference (MCID) for the CMT\u2010HI and its subscales were calculated by anchoring to a participant global impression of change scale.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      At baseline, CMT1A participants were 44.5\u2009\u00b1\u200915\u2009years old (range: 18\u201375) and 58% were women. The mean CMT\u2010HI was 25.7\u2009\u00b1\u200918.8 (range: 0\u201391.9; 100 reflecting maximal disease burden). The CMT\u2010HI correlated with the CMT\u2010FOM (\n                      <jats:italic>r<\/jats:italic>\n                      \u2009=\u2009.54,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u2009.0001), CMTNSv2R (\n                      <jats:italic>r<\/jats:italic>\n                      \u2009=\u2009.48,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u2009.0001), and CMTES\/CMTES\u2010R (\n                      <jats:italic>r<\/jats:italic>\n                      \u2009=\u2009.52\/\n                      <jats:italic>r<\/jats:italic>\n                      \u2009=\u2009.54,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u2009.0001). Disease burden was greater in women than in men (CMT\u2010HI 29.1\u2009\u00b1\u200919.1 vs. 21.2\u2009\u00b1\u200917.3,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u2009.001). Over 12\u2009months, there was a nonsignificant mean increase in CMT\u2010HI of 0.40\u2009\u00b1\u200910.0 (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u2009189,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u2009.89). The MCID for the CMT\u2010HI total score was 3.8 points (95% CI: 1.7\u20135.9).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Patient\u2010reported disease burden in CMT1A as measured by the CMT\u2010HI is associated with measures of neurologic impairment and physical functioning. Women reported a higher disease burden than men. These data will inform the design of clinical trials in CMT1A.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jns.12662","type":"journal-article","created":{"date-parts":[[2024,10,11]],"date-time":"2024-10-11T00:19:39Z","timestamp":1728605979000},"page":"487-493","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Patient\u2010reported disease burden in the Accelerate Clinical Trials in Charcot\u2013Marie\u2013Tooth Disease Study"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5815-0907","authenticated-orcid":false,"given":"T.","family":"Rehbein","sequence":"first","affiliation":[{"name":"Department of Neurology University of Rochester School of Medicine  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Purks","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester School of Medicine  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Dilek","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester School of Medicine  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Behrens\u2010Spraggins","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester School of Medicine  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. E.","family":"Sowden","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester School of Medicine  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4623-7014","authenticated-orcid":false,"given":"K. J.","family":"Eichinger","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester School of Medicine  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the ACT\u2010CMT Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Burns","sequence":"additional","affiliation":[{"name":"Sydney School of Health Sciences, University of Sydney  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6854-765X","authenticated-orcid":false,"given":"D.","family":"Pareyson","sequence":"additional","affiliation":[{"name":"Unit of Rare Neurological Diseases, Department of Clinical Neurosciences Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3900-2367","authenticated-orcid":false,"given":"S. S.","family":"Scherer","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Pennsylvania, Perelman School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. M.","family":"Reilly","sequence":"additional","affiliation":[{"name":"Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College of London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8460-6971","authenticated-orcid":false,"given":"M. E.","family":"Shy","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Iowa, Carver School of Medicine  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. P.","family":"McDermott","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester School of Medicine  Rochester New York USA"},{"name":"Department of Biostatistics and Computational Biology University of Rochester School of Medicine  Rochester New York USA"},{"name":"The Center for Health and Technology University of Rochester School of Medicine  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. R.","family":"Heatwole","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester School of Medicine  Rochester New York USA"},{"name":"The Center for Health and Technology University of Rochester School of Medicine  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. N.","family":"Herrmann","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester School of Medicine  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,10,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20143419"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/CND.0b013e31829e22e3"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2011.01657.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/ane.12013"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen\u20102019\u2010029240"},{"issue":"4","key":"e_1_2_8_7_1","first-page":"853","article-title":"Molecular analyses of unrelated Charcot\u2010Marie\u2010Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication","volume":"53","author":"Wise CA","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009035"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad095"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa323"},{"key":"e_1_2_8_11_1","unstructured":"Food and Drug Administration.Guidance for Industry: Patient\u2010Reported Outcome Measures: Use in Medical Product Development to Support Labeling Claims.2009."},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25282"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.930435"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000156517.00615.A3"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529\u20108027.2011.00350.x"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2005.081547"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006323"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000207963"},{"issue":"4","key":"e_1_2_8_19_1","article-title":"Charcot\u2010Marie\u2010Tooth Health Index (CMT\u2010HI): validation of the Italian version","volume":"25","author":"Pisciotta C","year":"2020","journal-title":"J Peripher Nerv Syst"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2013.10.029"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000010860"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000256818.43819.da"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1085\u20109489.2004.009209at.x"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainresrev.2004.12.021"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.12662","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,9]],"date-time":"2024-12-09T00:50:48Z","timestamp":1733705448000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.12662"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,10]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1111\/jns.12662"],"URL":"https:\/\/doi.org\/10.1111\/jns.12662","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,10]]},"assertion":[{"value":"2024-06-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}