High-Stakes Access: Aligning Managed Care Policy With the Urgency of Treatment in Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a rare, X-linked recessive disease that typically presents in early childhood and primarily affects males. DMD is characterized by progressive muscle weakness and degeneration that can lead to decreased quality of life and complications involving the respiratory, orthopedic, and cardiac systems. The pathophysiology of DMD involves frame-shift mutations, most often the deletion of one or more exons in the dystrophin gene, which result in the absence or insufficiency of functional dystrophin protein required to keep muscle cells intact. The therapeutic landscape is rapidly evolving with a focus on disease modification, particularly through exon-skipping therapies that aim to restore the genetic reading frame to produce a functional protein. This session will specifically review underlying genetic mechanisms in DMD and examine the clinical evidence supporting both approved and emerging exon-skipping therapies. After participating, pharmacists and managed care decision-makers will be better equipped to apply best practices for patient-centered care, facilitate timely access to appropriate treatments through informed coverage and formulary decisions, and coordinate multidisciplinary management to mitigate the clinical and economic burden of DMD.