The biological half-life of shortened therapeutic dystrophin proteins impacts significantly on the clinical efficacy of gene therapy and gene-editing-based treatment strategies targeting gene replacement in […]
Background: Natural history studies of spinal muscular atrophy (SMA) have traditionally relied upon ordinal functional scales or non-linear (MRC) strength measures, which provide limited insight […]
Objective: The purpose of the study was to evaluate appointment wait time for initial referral, and current best practices to expedite and triage referrals across […]
Background: Head-to-head clinical trials are the gold-standard for comparing the efficacy and safety of different treatments. In the absence of head-to-head trials, results from indirect […]
Design of clinical trials and evaluations of treatment efficacy in DMD require an understanding of the meaningfulness of changes in functional measures. An important concept […]
The Covid-19 pandemic has re-shifted the way in which we provide care in the pediatric neuromuscular community. Patients with neuromuscular diseases (NMDs) are more vulnerable […]
OBJECTIVE: To estimate the association between function, measured by NSAA score, and health state utility, measured by HUI2 and HUI3 score, among patients with DMD. […]
Background: Individuals diagnosed with Limb Girdle Muscular Dystrophy type 2I live with a chronic, sometimes life-threatening condition that has a significant impact on their quality […]
Knowledge of prognostic factors for pulmonary outcomes in DMD serves a general understanding of natural history and can help facilitate externally controlled studies and the […]