{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Fridman V"],"funding":["National Institute of Neurological Disorders and Stroke","National Institute of Diabetes and Digestive and Kidney Diseases","Acceleron","Muscular Dystrophy Association","Roche","Telethon","NIDDK NIH HHS","Voyager Therapeutics","Medical Research Council","Argenx","National Institute for Health Research (NIHR)","NINDS NIH HHS","Friedreich&apos;s Ataxia Research Alliance","Wellcome Trust"],"pagination":["563-576"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9977145"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["93(3)"],"pubmed_abstract":["<h4>Objective</h4>The paucity of longitudinal natural history studies in MPZ neuropathy remains a barrier to clinical trials. We have completed a longitudinal natural history study in patients with MPZ neuropathies across 13 sites of the Inherited Neuropathies Consortium.<h4>Methods</h4>Change in Charcot-Marie-Tooth Examination Score (CMTES) and Rasch modified CMTES (CMTES-R) were evaluated using longitudinal regression over a 5-year period in subjects with MPZ neuropathy. Data from 139 patients with MPZ neuropathy were examined.<h4>Results</h4>The average baseline CMTES and CMTES-R were 10.84 (standard deviation [SD] = 6.0, range = 0-28) and 14.60 (SD = 7.56, range = 0-32), respectively. A mixed regression model showed significant change in CMTES at years 2-5 (mean change from baseline of"],"journal":["Annals of neurology"],"pubmed_title":["Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study."],"pmcid":["PMC9977145"],"funding_grant_id":["UILDM","1R01DK115687‐03","U54 NS065712","5K23DK118202‐02","K23 DK118202","R01 DK115687","5U01NS109403‐03","NF-SI-0515-10022","R35 NS122306","2U54NS065712‐07","U01 NS109403","U54 NS0657"],"pubmed_authors":["Herrmann DN","Moroni I","Sillau S","Shy ME","Day J","Lloyd TE","Scherer SS","Pisciotta C","Ramchandren S","Grider T","Shy R","Fridman V","Laura M","Wilcox J","Pareyson D","Li J","Inherited Neuropathies Consortium-Rare Diseases Clinical Research Network","Pagliano E","Gutmann L","Feely S","Muntoni F","Finkel RS","Smith K","Bacon C","Sumner CJ","Bockhorst J","Piscosquito G","Yum SW","Reilly MM","Sadjadi R","Siskind CE"],"additional_accession":[]},"is_claimable":false,"name":"Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.","description":"<h4>Objective</h4>The paucity of longitudinal natural history studies in MPZ neuropathy remains a barrier to clinical trials. We have completed a longitudinal natural history study in patients with MPZ neuropathies across 13 sites of the Inherited Neuropathies Consortium.<h4>Methods</h4>Change in Charcot-Marie-Tooth Examination Score (CMTES) and Rasch modified CMTES (CMTES-R) were evaluated using longitudinal regression over a 5-year period in subjects with MPZ neuropathy. Data from 139 patients with MPZ neuropathy were examined.<h4>Results</h4>The average baseline CMTES and CMTES-R were 10.84 (standard deviation [SD] = 6.0, range = 0-28) and 14.60 (SD = 7.56, range = 0-32), respectively. A mixed regression model showed significant change in CMTES at years 2-5 (mean change from baseline of","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Mar","modification":"2026-06-02T19:25:46.629Z","creation":"2025-04-03T23:50:19.67Z"},"accession":"S-EPMC9977145","cross_references":{"pubmed":["36203352"],"doi":["10.1002/ana.26518"]}}