Patient advocacy groups reacted with anger and dismay after a federal advisory committee voted against including Duchenne muscular dystrophy (DMD)—at least for now—among the panel of rare diseases for which newborn babies should be screened.
The February 10, 2023, decision by the Advisory Committee on Heritable Disorders in Newborns and Children means additional supporting evidence will be necessary before moving the nomination of DMD forward to the next step of inclusion on the Recommended Uniform Screening Panel (RUSP). The committee advises the secretary of the US Department of Health and Human Services.
Paul Melmeyer, vice president of advocacy and public policy at the Muscular Dystrophy Association (MDA), said he’s “disappointed” but that “we are undeterred in our efforts to add Duchenne to the RUSP.”
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In June 2022, Parent Project Muscular Dystrophy (PPMD), with MDA as a cosponsor, nominated the fatal neuromuscular disease for inclusion on the RUSP. Pat Furlong, the PPMD’s founding president and CEO, said she knew that while the process was long and cumbersome, “we were very enthusiastic because we felt it included all the pieces and parts needed” to win the committee’s approval.
“This decision is horrible,” Furlong told Rare Disease Advisor by phone. “We can already diagnose boys at birth, and with the reasonably likely approval of our first gene therapy for Duchenne on May 29, we can treat these little ones and hopefully change the trajectory of this illness.”
Furlong was referring to Sarepta’s delandistrogene moxeparvovec (SRP-9001), which recently won priority review for its Biologics License Application by the US Food and Drug Administration (FDA). The agency is expected to take action on the application by May 29, 2023. It would be the first-ever one-time gene therapy to treat the underlying cause of Duchenne by delivering a functional shortened dystrophin to the muscle.
Furlong said the advisory committee was specifically concerned about the number of false positive results in pilot studies, as well as how exactly boys who tested positive for Duchenne would receive early care.
“Dr. Jerry Mendell [a leading Duchenne expert and professor of neurology and pediatrics at Nationwide Children’s Hospital in Columbus] did a pilot study in Ohio hospitals and screened about 100,000 babies,” she said. “But in order to submit a nomination to RUSP, you have to screen more babies than Ohio has in a given year. So we worked with New York state to increase the amount of babies screened.”
Debra Miller, CEO and founder of CureDuchenne, said the group was disappointed by the committee’s vote.
“We know that early diagnosis is key for individuals with Duchenne so that care can be started promptly and when it is believed treatments will be most effective,” she said. “This reconfirms our commitment to our collaboration with Brigham and Women’s Hospital to implement newborn screening on a state level while we continue to provide supporting evidence for the RUSP submission.”
That program has screened 8560 babies and identified 228 with elevated creatine kinase (CK) levels and 6 potential female carriers but no newborns with DMD.
At present, 37 diseases are on the RUSP including cystic fibrosis, Pompe disease, sickle cell disease, and spinal muscular atrophy (SMA). Yet that alone doesn’t mean every state will screen for all these conditions. For example, even though SMA was added to the RUSP in July 2018, states only gradually added the neuromuscular disease to their panels. Today, 48 states—all except Hawaii and Nevada—now screen babies for SMA, meaning 98% of all babies born in the US today are now tested for the disease within 48 hours of birth.
“Early treatment matters in almost every single disease, and there are already some state-specific efforts underway,” Furlong said, adding that Ohio Gov. Mike DeWine has taken a personal interest in the Duchenne campaign. “While we want the RUSP nomination, I’m guessing we’ll go back to the drawing board and begin a state-by-state approach and resubmit to RUSP later.”
