biostudies-literatureFridman VNational Institute of Neurological Disorders and StrokeNational Institute of Diabetes and Digestive and Kidney DiseasesAcceleronMuscular Dystrophy AssociationRocheTelethonNIDDK NIH HHSVoyager TherapeuticsMedical Research CouncilArgenxNational Institute for Health Research (NIHR)NINDS NIH HHSFriedreich&apos;s Ataxia Research AllianceWellcome Trust563-576https://www.ebi.ac.uk/biostudies/studies/S-EPMC9977145biostudies-literatureUnknown93(3)<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 ofAnnals of neurologyDisease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.PMC9977145UILDM1R01DK115687‐03U54 NS0657125K23DK118202‐02K23 DK118202R01 DK1156875U01NS109403‐03NF-SI-0515-10022R35 NS1223062U54NS065712‐07U01 NS109403U54 NS0657Herrmann DNMoroni ISillau SShy MEDay JLloyd TEScherer SSPisciotta CRamchandren SGrider TShy RFridman VLaura MWilcox JPareyson DLi JInherited Neuropathies Consortium-Rare Diseases Clinical Research NetworkPagliano EGutmann LFeely SMuntoni FFinkel RSSmith KBacon CSumner CJBockhorst JPiscosquito GYum SWReilly MMSadjadi RSiskind CEfalseDisease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.<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 of2023-01-01T00:00:00Z2023 Mar2026-06-02T19:25:46.629Z2025-04-03T23:50:19.67ZS-EPMC99771453620335210.1002/ana.26518