Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients

• Published in: Journal of comparative effectiveness research Vol. 11; no. 3; pp. 139 - 155
• Main Authors: McDonald, Craig M, Muntoni, Francesco, Penematsa, Vinay, Jiang, Joel, Kristensen, Allan, Bibbiani, Francesco, Goodwin, Elizabeth, Gordish-Dressman, Heather, Morgenroth, Lauren, Werner, Christian, Li, James, Able, Richard, Trifillis, Panayiota, Tulinius, Már, Ryan, M, Jones, K, Goemans, N, Campbell, C, Mah, JK, Selby, K, Chabrol, B, Pereon, Y, Voit, T, Gidaro, T, Schara, U, Kirschner, JB, Nevo, Y, Comi, GP, Bertini, E, Mercuri, E, Colomer, J, Nascimento, A, Vilchez, JJ, Tulinius, M, Sejersen, T, Muntoni, F, Bushby, K, Guglieri, M
• Format: Journal Article
• Language: English
• Published: England Future Medicine Ltd 01.02.2022
• Subjects: ataluren; benefits; Clinical Medicine; Codon, Nonsense; diagnosis; dmd; Duchenne muscular dystrophy; dystrophin; efficacy; glucocorticoids; Health Care Sciences & Services; Humans; Klinisk medicin; life; loss of ambulation; management; Muscular Dystrophy, Duchenne - genetics; natural-history; nonsense mutation; nonsense mutation Duchenne muscular dystrophy; Oxadiazoles - therapeutic use; progression; respiratory function; Study 019; Walking; nonsense mutation Duchenne muscular dystrophy; ataluren; loss of ambulation; respiratory function; dystrophin; efficacy; Study 019
• ISSN: 2042-6305; 2042-6313; 2042-6313
• DOI: 10.2217/cer-2021-0196

We investigated the effect of ataluren plus standard of care (SoC) on age at loss of ambulation (LoA) and respiratory decline in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) versus patients with DMD on SoC alone. Study 019 was a long-term Phase III study of ataluren safety in nmDMD patients with a history of ataluren exposure. Propensity score matching identified Study 019 and CINRG DNHS patients similar in disease progression predictors. Ataluren plus SoC was associated with a 2.2-year delay in age at LoA (p = 0.0006), and a 3.0-year delay in decline of predicted forced vital capacity to <60% in nonambulatory patients (p = 0.0004), versus SoC. Ataluren plus SoC delays disease progression and benefits ambulatory and nonambulatory patients with nmDMD. : .