Limb-Girdle Muscular Dystrophy Scientific Workshop: A Multistakeholder Discussion Focused on Charting the Path Forward for Drug Development

Abstract

Limb-girdle muscular dystrophy (LGMD) refers to a group of muscular dystrophies that generally result in weakness and loss of limb-girdle muscles, leading to severe disability and early mortality due to cardiac and respiratory complications. Heterogeneity across and within individual LGMD subtypes in addition to variability in progression rates presents significant challenges to traditional drug development approaches for these diseases. In an effort to discuss these challenges, as well as opportunities in support of advancing drug development for LGMD, on February 8, 2024, The Speak Foundation assembled a multistakeholder group consisting of academic medical experts, patients and caregivers, patient advocacy organizations, senior leaders from the US Food and Drug Administration, and commercial drug developers. This review will provide an overview of the broad range of topics discussed at the workshop, including LGMD pathophysiology, natural history studies, clinical outcomes, patient-focused drug development, surrogate end points, the Accelerated Approval pathway, and future directions for LGMD drug development.