Browse by author
Lookup NU author(s): Professor Volker StraubORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2024 Muntoni et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.Evaluations of treatment efficacy in Duchenne muscular dystrophy (DMD), a rare genetic disease that results in progressive muscle wasting, require an understanding of the ‘meaningfulness’ of changes in functional measures. We estimated the minimal detectable change (MDC) for selected motor function measures in ambulatory DMD, i.e., the minimal degree of measured change needed to be confident that true underlying change has occurred rather than transient variation or measurement error. MDC estimates were compared across multiple data sources, representing >1000 DMD patients in clinical trials and real-world clinical practice settings. Included patients were ambulatory, aged ≥4 to <18 years and receiving steroids. Minimal clinically important differences (MCIDs) for worsening were also estimated. Estimated MDC thresholds for >80% confidence in true change were 2.8 units for the North Star Ambulatory Assessment (NSAA) total score, 1.3 seconds for the 4-stair climb (4SC) completion time, 0.36 stairs/second for 4SC velocity and 36.3 meters for the 6-minute walk distance (6MWD). MDC estimates were similar across clinical trial and real-world data sources, and tended to be slightly larger than MCIDs for these measures. The identified thresholds can be used to inform endpoint definitions, or as benchmarks for monitoring individual changes in motor function in ambulatory DMD.
Author(s): Muntoni F, Signorovitch J, Sajeev G, Done N, Yao Z, Goemans N, McDonald C, Mercuri E, Niks EH, Wong B, Vandenborne K, Straub V, de Groot IJM, Tian C, Manzur A, Dieye I, Lane H, Ward SJ, Servais L, Deconinck N, Tulinius M, Flanigan K, Henricson E, Dutra de Resende MB, Vita GL, Schara U, Kirschner J, Topaloglu H, Monges S, Cances C, Domingos J, Ricotti V, Selby V, Wolfe A, Abbott L, Milev E, Panagiotopoulou E, Iodice M, Ash M, Voit T, Decostre V, Gilabert S, Hogrel J-Y, Murphy A, Mayhew A, Van der Holst M, Krom YD, van Heur-Neuman MJ, Jansen M, Pelsma M, Bobbert M, Verschuuren JJGM, Robb S, Quinlivan R, Sarkozy A, Munot P, Baranello G, Scoto M, Main M, Patel H, Samsuddin S, Gupta VA, Bushby K, Bertolli C, Muni-Lofra R, James M, Moat D, Sodhi J, Roper H, Parasuraman D, McMurchie H, Rabb R, Pysden K, Pallant L, Peachey G, Madhu R, Shillington A, Jungbluth H, Sheehan J, Spahr R, Bateman E, Cammiss C, Groves L, Emery N, Baxter P, Goulborne N, Senior M, Scott E, Hartley L, Parsons B, Mason F, Jenkins L, Toms B, Frimpong-Ansah C, Jarvis H, Dalgleish J, Keddie A, Di Marco M, Dunne J, Miah A, Selley A, Geary M, Palmer J, Greenfield K, MacAuley S, Robbins H, Iqbal M, Ward C, Taylor J, O'Hara A, Tewnion J, Chandratre S, Ramdas S, White M, Ramjattan H, Yirrel J, Arora H, Willcocks RJ, Lott DJ, Senesac CR, Triplett WT, Byrne BJ, Walte GA, Sweeney HL, Harrington AT, Tennekoon GI, Zilke KL, Finanger EL, Russman BS, Daniels MJ, Xu D, Finkel RS, Bettica P, Billeter M, Van den Hauwe M, Rybalsky I, Shellenbarger KC, McCormick AE, McGuire MN, Bonarrigo K, Fowler AE, Kiefer M, Bange J, Hu S, Chik F, Chen J, Shen P
Publication type: Article
Publication status: Published
Journal: PLoS ONE
Year: 2024
Volume: 19
Issue: 7
Online publication date: 10/07/2024
Acceptance date: 20/05/2024
Date deposited: 27/02/2025
ISSN (electronic): 1932-6203
Publisher: Public Library of Science
URL: https://doi.org/10.1371/journal.pone.0304984
DOI: 10.1371/journal.pone.0304984
Data Access Statement: All relevant aggregate data are reported within the manuscript and the Supporting Information files. This study uses third party data sources accessed by the collaborative Trajectory Analysis Project (cTAP), through data use agreements with the relevant data holders. Individual-level data for some of these data sources are available on public repositories, and can be accessed through requests to the data holders via these repositories. [See published article for full data access statement.]
PubMed id: 38985784
Altmetrics provided by Altmetric
