Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians

Abstract

Duchenne muscular dystrophy (DMD) is a rare, X-linked, progressive, degenerative muscle disease due to pathogenic variants in the DMD gene resulting in absence of functional dystrophin protein.1 Patients with DMD have irreversible muscle damage that begins at birth, and there is histologic evidence of disease progression with progressive inflammation and fibrosis within the first years of life.2 Proactive interdisciplinary care, corticosteroids, and advances in disease-modifying treatments have changed the trajectory of the disease, leading to slower progression and improving life expectancy. [...]there is a robust pipeline of targeted gene-based therapies and treatments targeting downstream pathways such as regulating muscle fiber degeneration and regeneration.3–5 While existing treatments offer benefits by delaying or slowing disease progression, none provide a cure. In some instances, treating providers are required to attest that the provider would not start the patient on exon-skipping agent or would discontinue exon-skipping agent if coverage for gene transfer therapy is approved—a restriction that could be considered unethical, as physicians have an obligation to consider the best care options for their patients as their disease evolves and as new treatment options become available. ” “Currently our health plan policy for (medication name) does not allow coverage of the requested drug for DMD unless the patient is ambulatory as defined by a current six-minute walk test (6MWT distance >180 meters).