Merosin-deficient congenital muscular dystrophy (MDC1A) is caused by mutations in the LAMA2 gene encoding laminin-?2, an extracellular protein essential for skeletal muscle and Schwann cell […]
In skeletal muscle, replacement of contractile myofibers with non-contractile fibro-fatty infiltrate is a hallmark of severe muscular dystrophies. Fibro-adipogenic progenitor cells (FAPs), a group of […]
Objective: Assess clinical efficacy of losmapimod to slow or stop disease progression with Reachable Workspace (RWS). Background: RWS is a 3D assessment of function that […]
Objective: Evaluate annualized clinical outcome changes in subjects with facioscapulohumeral muscular dystrophy (FSHD) treated with losmapimod compared with placebo. Background: FSHD is a relentless, variably […]
OBJECTIVE: To determine the predictive value of simple motor assessments, neuroimaging and tissue biomarkers on milestones of disease progression (i.e., need for orthotics, ambulation aides, […]
Objective: To hasten drug development for facioscapulohumeral muscular dystrophy (FSHD) by validating clinical outcome assessments (COAs) and refining trial strategies. Background: FSHD is a dominantly-inherited […]
Objective: To determine progression in limb girdle muscular dystrophy R9 (LGMD R9) measured by functional clinical outcome assessments (COAs). Background: LGMD R9, an autosomal recessive […]
Background: Limb-girdle muscular dystrophy type 2E/R4 (LGMD2E/R4) is caused by mutations in the ?-sarcoglycan gene (SGCB), resulting in loss of SGCB protein and, subsequently, an […]
Introduction: Limb Girdle Muscular Dystrophy (LGMD) Type 2I, also called LGMDR9 FKRP-related, is caused by bi-allelic loss-of-function of the fukutin-related protein (FKRP) gene which results […]