The additions aim to enable earlier detection and treatment of both rare conditions, which typically aren’t diagnosed until ages 4-5.
The US Department of Health and Human Services (HHS) has approved adding Duchenne muscular dystrophy and metachromatic leukodystrophy to the Recommended Uniform Screening Panel (RUSP) for newborns following scientific review and public comment.
The decision aims to enable earlier detection of both conditions, which are typically diagnosed at 4-5 years of age when significant muscle loss or functional decline has already occurred, according to a release from the HHS. Early identification allows children to receive US Food and Drug Administration-approved therapies when they are most effective at slowing disease progression, the HHS notes in the release.
“Early screening gives every child a fair chance at timely, effective care, and it delivers families the answers and treatment options they deserve—right when they need them most,” says HHS secretary Robert F Kennedy Jr in a release.
The RUSP is the list of conditions HHS recommends for universal newborn screening. Individual states decide whether to adopt each screening recommendation. HHS’ Health Resources and Services Administration (HRSA) administers the RUSP.
Impact on Diagnostic Timeline
The additions aim to address a diagnostic challenge for Duchenne muscular dystrophy and metachromatic leukodystrophy, as most children with the conditions currently face years-long diagnostic searches involving repeated specialist visits before receiving a definitive diagnosis.
“Early data changes the entire trajectory for affected children and their families,” says HRSA administrator Tom Engels in a release. “A confirmed result in infancy replaces years of guesswork and helps families make informed decisions about treatment and support.”
The earlier detection timeline will help children retain abilities for longer periods while reducing the financial and emotional strain on families during the diagnostic process.
Congressional Support
Several members of Congress joined patient advocates to support the announcement. Senator Katie Britt (R-AL) emphasized the importance of providing families with early information for making treatment decisions.
Senator Roger Wicker (R-MS), who has worked on Duchenne muscular dystrophy-related legislation for nearly 25 years, notes the direct relationship between increased research funding and longer lifespans for children with these conditions. “We have also learned that earlier testing changes lives. Including [Duchenne muscular dystrophy] in universal screening for newborns will be life-changing,” says Wicker in a release.
As co-chair of the Congressional Rare Disease Caucus, congressman Gus Bilirakis (R-FL) highlighted the broader impact on rare disease detection. “By identifying rare diseases early, we can dramatically improve a child’s chances for timely treatment, effective therapies, and, in some cases, cures,” he says in a release.
HHS notes it will continue supporting states as they move toward implementation and evaluate how early detection can improve outcomes for children affected by rare diseases.
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