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. 2025 Jan:46:105276.
doi: 10.1016/j.nmd.2025.105276. Epub 2025 Jan 7.

Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophy

Marianela Schiava  1 , John P Bourke  1 , Jordi Díaz-Manera  1 , Anna Johnson  2 , Maha A Elseed  1 , Giorgio Tasca  1 , Kadhim Kadhim  2 , Volker Straub  1 , Chiara Marini Bettolo  1 , Michela Guglieri  3
Affiliations

Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophy

Marianela Schiava et al. Neuromuscul Disord. 2025 Jan.

Abstract

Cardiomyopathy is a common co-morbidity in individuals with Duchenne muscular dystrophy (DMD). This retrospective single centre study investigated the relationship between age at loss of ambulation (LOA) and late stage left ventricular ejection fraction (LVEF) in 84 individuals (> 16 years old) with DMD taking glucocorticoid and ACE inhibitors treatment. Regression analyses showed a positive correlation between later age at LOA and higher LVEF in adulthood (linear regression estimate 1.49, 95 % CI: 0.13-2.84, p = 0.03). Each additional year of ambulation increased the odds of displaying a higher LVEF category (LVEF 40 %, 40 - 50 % or 50 %) by 35 % (p = 0.003). Sensitivity models excluding cardioprotective genotypes (absence of Dp116 isoform) and mild motor phenotypes (out of frame deletions amenable to skip exon 44 and 45) confirmed this association while models including age at respiratory impairment did not improve the model. Individuals who lost ambulation before age 11.92 (ROC AUC 0.73, 95 % CI: 0.60-0.85) reached a LVEF <40 % 5.21 years earlier than those who lost ambulation after that age (adjusted restricted mean survival time 19.08 vs 24.29 years, p < 0.001). These findings may suggest that prolonging ambulation does not impact cardiac function adversely in advance stages of DMD.

Keywords: DMD age loss of ambulation – LVEF; DMD ambulation-cardiac correlation; loss of ambulation and cardiac function adult DMD.

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Conflict of interest statement

Declaration of competing interest M. Guglieri has been participating in advisory boards for PTC Therapeutics, Capricor, Pfizer and NS Pharma. She had research collaborations with ReveraGen, PTC, Sarepta, Duchenne UK and MDUK through Newcastle University. She is or has been Principal Investigator for clinical trials with Roche, Italfarmaco, Santhera, ReveraGen, Summit, Pfizer, PTC Therapeutics. She received speaker honoraria from Italfarmaco, Roche, Novartis and Sarepta. M. Schiava has received a grant by UK Duchenne through Newcastle University. C. Marini Bettolo has received a grant by Duchenne UK through Newcastle University. J. Bourke is a Data Monitoring Committee member for Sarepta gene-therapy trials and is a Scientific Advisor to Sarepta, Pfizer, Roche and EspeRere Foundation. The rest of the authors report no competing interests.

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