DMD Treatment Changes: Combination Therapy, Adherence, and Gene Therapy Access

Dr. Brandsema asks what factors would prompt treatment changes in the case patient, opening a broad discussion about how and when clinicians modify DMD regimens. Dr. Veerapandiyan identifies two primary drivers: safety concerns, such as corticosteroid-related weight gain prompting a dose adjustment or switch to an alternate dosing schedule, and efficacy considerations, which increasingly point toward adding therapies rather than replacing them. He describes the emerging paradigm of individualized combination or "cocktail" therapy — layering multiple agents based on each patient's disease state, family preferences, goals, and payer landscape.

A key question raised is whether clinicians should wait for functional decline before adding a new therapy. Both panelists lean toward an anticipatory approach, preferring to act before deterioration occurs. Dr. Veerapandiyan frames it personally: as a parent, he would not wait to see decline before trying to preserve function. Dr. Brandsema acknowledges the inherent challenge — most DMD therapies aim to stabilize or slow progression rather than produce noticeable improvement, making it difficult for families to perceive benefit from burdensome treatments. He cites exon skipping therapy as a prime example: families committed to weekly infusions without noticing functional differences, yet real-world data have since confirmed meaningful efficacy signals in skeletal muscle, cardiac, and pulmonary outcomes. Several families, however, have declined commercially available exon skipping therapy entirely due to the burden of weekly IV infusions. Port-a-cath placement has helped some, though coagulation considerations in later-stage DMD patients warrant careful thought.

The discussion then turns to the rollercoaster experience of gene therapy access for non-ambulatory patients — approved via an accelerated pathway based on limited data, subsequently complicated by emerging safety signals, and ultimately withdrawn from clinical availability for that population. Dr. Veerapandiyan stresses the importance of ensuring that treatment decisions, particularly for older patients, genuinely reflect the individual's own wishes and not solely those of parents or caregivers.

In the next episode, "DMD Transition to Adult Care: Timing, Best Practices, and Patient Readiness," the panel examines how and when to begin the pediatric-to-adult care transition and what best practices help ensure a smooth, individualized handoff.