Duchenne muscular dystrophy (DMD) is a rare, X-linked, progressive, debilitating and ultimately fatal disease caused by mutations in the DMD gene leading to the loss of function of the dystrophin protein. Loss of ambulation begins in the first 10 years of life, with patients requiring increased assistance with the activities of daily living as they age. Ataluren is an oral therapy for ambulatory patients with nonsense mutation DMD that restores the production of dystrophin, helping to preserve muscle mass and prolong functioning.
In this video, Craig McDonald (University of California Davis School of Medicine, USA) and Már Tulinius (Gothenburg University, Sweden) discuss their recent publication, ‘Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients’, published in the Journal of Comparative Effectiveness Research.
Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients.
Craig McDonald, Francesco Muntoni, Vinay Penematsa et al.
Journal of Comparative Effectiveness Research 11(3) (2021) DOI: 10.2217/cer-2021-0196