Science is on the case.
After decades spent as an orphan disease with few to no prospects, Duchenne now has eight FDA-approved therapies—including the first approved gene therapy for DMD, Elevidys. Though Charlie’s rare mutation does not qualify for most approved therapies, he was fortunate to receive Elevidys through a clinical trial. It works by delivering a shortened form of the dystrophin-producing gene, called microdystrophin, directly to muscle cells.
Gene therapy has been a game-changer for kids like Charlie. He’s experiencing gains in strength and function that were unimaginable just a few years ago.
But treated muscle cells turn over and get replaced. Gene therapy buys precious time but it’s not a permanent cure. Scientists are developing multiple therapies that could work together as a “cocktail”—each one addressing different aspects of Duchenne.
The cure isn’t here—yet. But there is hope that one day, we can give Charlie and other boys a future no longer limited by the genes they were born with. We are getting closer every day.
How We’ll Do It
Medical history, made. Boys like ours, saved.
Forward-thinking research toward new treatments—and a cure. Thanks to herculean efforts over the past two decades, a wealth of potential treatments are at various stages of development to prevent muscle and heart damage, and treat damage already done. But boys are not mice, and many approaches that hold promise in lab research ultimately fail when tested in patients—so there’s monumental work to be done. We fund advanced research, including Charlie’s Million Dollar Moonshot, to give Charlie and other boys living with Duchenne best quality of life and opportunities for real hope.
Awareness and advocacy. We advocate for new ways of thinking and policy change, to rally policymakers and other decision-makers around early diagnosis (newborn screening); research, development and approval of new treatments; and patient access to new therapies.
Pioneering care. We knew right away that a care team at ease with the status quo would not be a good fit for our family. Thankfully, we don’t have to settle: We have the very best neuromuscular team caring for Charlie and our family, from top centers including UMass Medical Center, Nationwide Children’s and the University of Rochester/Strong Memorial, offering continued innovation in Duchenne care—until we make this disease obsolete.