All publications

This article in the Journal of Comparative Effectiveness Research summarizes the Cincinnati study, which investigated the effectiveness of 2 corticosteroid treatments in prolonging motor function in Duchenne muscular dystrophy (DMD)

Published in the Journal of Neuromuscular Diseases, this paper compares the effectiveness of 2 different corticosteroids in preserving limb function in non-ambulatory patients with Duchenne muscular dystrophy (DMD)

Published in the Journal of Comparative Effectiveness Research, this paper compares the effectiveness of corticosteroids by age and disease progression across patients from a range of Phase 2b and Phase 3 clinical trials

This opinion piece, published in the Journal of the Neurological Sciences, explores the effectiveness of a range of quality of life measurements commonly used for patients with Duchenne muscular dystrophy (DMD)

Published in the New Emirates Medical Journal, this case report discusses the challenges of treatment access and meeting Duchenne muscular dystrophy (DMD) care guidelines in the Middle East in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD)

This paper, published in the Journal of Neuromuscular Diseases, explores the key similarities and differences between 2 corticosteroid treatments and their effectiveness when used in patients with Duchenne muscular dystrophy (DMD)

Published in the Journal of Neurology, this is an updated interim report from the ongoing Strategic Targeting of Registries and International Database of Excellence (STRIDE) international, multicenter registry of real-world ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD)

This research article, published in the Journal of Neuromuscular Diseases, provides a review of the impact of timing of clinical interventions in patients with Duchenne muscular dystrophy (DMD)

This research article, published in PLoS ONE, provides a summary of the prognostic indicators of disease progression in Duchenne muscular dystrophy (DMD)

This research article, published in the Journal of Comparative Effectiveness Research, provides results from a retrospective real-world analysis of corticosteroid use in patients with Duchenne muscular dystrophy (DMD)

This research article, published in Future Neurology, describes the symptoms of nonsense mutation Duchenne muscular dystrophy (nmDMD), and the impact of the condition on caregivers, at different stages of the disease

This case study, published in Acta Myologica, details an ambulant 2-year-old patient with nonsense mutation Duchenne muscular dystrophy (nmDMD), who received early treatment with a mutation-specific therapy in an expanded-access program

This research article, published in the Journal of Comparative Effectiveness Research, provides results of meta-analyses comparing the efficacy of different corticosteroids in the management of nonsense mutation Duchenne muscular dystrophy (nmDMD)

In this video, recorded in 2022 for the Video Journal of Biomedicine, 2 authors of a research article present the background and findings from their study of a mutation-specific treatment for nonsense mutation Duchenne muscular dystrophy (nmDMD)

This research article, published in the Journal of Comparative Effectiveness Research, provides results from a study investigating the efficacy of a mutation-specific therapy in delaying loss of ambulation (LoA) and respiratory function in patients with nonsense mutation DMD (nmDMD)

This research article, published in the Journal of Patient Reported Outcomes, describes the development of a conceptual model of the impact of nonsense mutation Duchenne muscular dystrophy (nmDMD) on caregivers, based on interviews with parents of patients with the condition

This article, published in PharmacoEconomics, provides results from an investigation to determine the cost of illness of Duchenne muscular dystrophy (DMD)

This research article, published in the Journal of Patient Reported Outcomes, describes the development of a conceptual model of the symptoms and impacts of nonsense mutation Duchenne muscular dystrophy (nmDMD), based on qualitative interviews with caregivers

This research article, published in Muscle and Nerve, describes investigations into a well-developed analytical procedure for evaluating longitudinal treatment effects using the North Star Ambulatory Assessment (NSAA) data for illustration

This research article, published in Drug Metabolism and Pharmacokinetics, evaluates the in vitro and in vivo stability of ataluren-O-1β-acyl glucuronide metabolite 

This research article, published in Pharmacology Research & Perspectives, investigates the plasma pharmacokinetics, metabolite profiles and their quantitative exposures in humans following a single oral dose of deflazacort 

This research article, published in Pharmacology Research & Perspectives, evaluates cytochrome P450 (CYP)- and transporter-mediated drug interaction potentials of 6β-hydroxy-21-desacetyl deflazacort (6β-OH-21-desDFZ)

This research article, published in Drug Metabolism and Disposition, looks at the in vivo metabolism of ataluren in selected species 

This research article, published in Pharmacology Research and Perspectives, describes the in vitro metabolism and enzyme kinetics of ataluren and its interaction with CYP enzymes 

This research letter, published in the JAMA Network Open, presents an analysis of 2 randomized, double-blind, placebo-controlled trials of a mutation-specific DMD gene therapy 

This article, published in the Journal of Clinical Medicine, evaluates the developmental trajectory of working memory in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) 

This research article, published in the Journal of Comparative Effectiveness Research, examines the totality of efficacy evidence for a mutation-specific therapy in patients with nmDMD by meta-analysis

This research article, published in the Journal of Comparative Effectiveness Research, outlines the safety and effectiveness of a mutation-specific Duchenne muscular dystrophy (DMD) therapy in 2 propensity score-matched DMD patient populations 

This clinical research article, published in the Muscle & Nerve Journal, compares disease progression among boys enrolled in the placebo arms of 2 DMD clinical trials receiving deflazacort or prednisone/prednisolone

This research article, published in the Journal of Comparative Effectiveness Research, outlines the initial demographics and baseline characteristics of patients enrolled in STRIDE, an observational registry of nmDMD patients receiving a mutation-specific DMD therapy

This article, published in the Neurology Journal, outlines the relationship between deficit in digit span and genotype in nmDMD.

This research article, published in the Muscle & Nerve Journal, details a post hoc analysis of the placebo arm of the Ataluren Confirmatory Trial (ACT) Duchenne muscular dystrophy (DMD) study