Rep. Marra Proposes Screening Newborns for Duchenne Muscular Dystrophy

2024 Rare Disease Day is Wednesday, February 28, 2024. 

Inspired by a constituent whose young son is battling a rare and fatal muscle disease, State Representative Tracy Marra (R-141) proposed legislation to add Duchenne Muscular Dystrophy (DMD) to the disorders detected through the Connecticut Newborn Screening Program, which provides standard screening for serious genetic disorders to all newborns born in the state.

Duchenne is the most common pediatric muscular dystrophy, causing progressive muscle degeneration and weakness. Though its muscle-damaging effects begin at birth, Duchenne’s symptoms typically are not apparent until age two, and the average age of diagnosis is age five. The disease progresses to loss of ambulation and reliance on a wheelchair, respiratory and cardiac failure, and death, typically in patients’ 20s or early 30s. Though it mainly impacts boys, female patients can genetically carry the condition and can suffer from related impacts including heart failure—supporting the case for universal screening for all babies.

“Testing for this terrible disease as part of the standard screening all newborns receive will allow medical professionals to quickly diagnose and create a positive treatment plan for children long before its devastating effects usually appear,” Rep. Marra, a member of the Public Health Committee said. “Families will be able to prepare for long-term care and provide supports, while also making sure their child has access to cutting-edge treatments that slow the disease’s progression and provide hope for the future.”

Charlie Handt of Darien is one of those children. He received the first FDA-approved gene therapy, Elevidys, through an ongoing phase three clinical trial. The therapy is currently FDA approved for patients ages four and five only, making earlier diagnosis critical. “We were so fortunate Charlie qualified for the trial,” explained Jennifer Handt, Charlie’s mother. “But other families shouldn’t need luck to get their children treated—they need and deserve early knowledge about their children’s condition in order to make the best decisions for them.”

Early diagnosis of DMD can be both cost-saving and life-changing. Seven FDA-approved treatments, including gene therapy, are now available to slow the progression of the disease, with several more potential future treatments in clinical trial. Improvements in comprehensive care for DMD alone have also led to improvements in life expectancy. Further, the EveryLife Foundation estimates that delayed diagnosis costs each impacted family an average of $211,229 in total medical and productivity costs. The estimated per-patient cost to add DMD to newborn screening is just $8.

“Diagnosing any disease early, especially one as debilitating as Duchenne, gives each patient the absolute best chance for a positive outcome. Now that disease-altering therapies are available, including a gene therapy approved just this past year, the need to identify these children early is imperative,” Rep. Marra said.

The proposal has been filed for consideration with the Public Health Committee.

“Charlie is doing incredibly well and we have so much hope for his outcome,” added Handt, noting that her son can now rise from the floor without trouble—a predictive indicator of disease progression. “Every family impacted by Duchenne deserves this same hope, and I’m grateful to think that the State of Connecticut can help lead the way toward universal early diagnosis.”