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July 22, 2021


SCREENING FOR DUCHENNE MUSCULAR DYSTROPHY NOW AVAILABLE FOR ALL BABIES BORN AT
THE BRIGHAM

BOSTON — Brigham and Women’s Hospital will now offer an optional screening test
for all babies born at the hospital for a disorder known as Duchenne Muscular
Dystrophy (Duchenne). The screening test, which can be performed using a small
amount of extra blood collected at the same time as the required state newborn
screen for other diseases, could help diagnose the rare but devastating disorder
early, allowing families to take advantage of therapeutic interventions before
symptoms progress. Through a partnership between the Brigham and CureDuchenne, a
non-profit patient advocacy group which supports individuals and families
affected by Duchenne, optional screening of newborns at the Brigham will be
available free of charge to parents.

“We want to ensure that all babies have the healthiest future possible, and
screening for diseases for which early intervention may improve outcome,
including rare conditions like Duchenne, is key to that mission,” said Richard
Parad, MD, MPH, a neonatologist and director of the Newborn Genomic Medicine
Program in the Department of Pediatric Newborn Medicine at the Brigham.
“Identifying an affected child early could help us provide critical, early
therapy to help preserve their muscle function.”

Duchenne is a rare genetic disorder that affects about 1 in every 3,500 newborn
boys and is less common among newborn girls. Duchenne is caused by genetic
changes in the DMD gene, which provides instructions for making a key structural
protein called dystrophin. When dystrophin is missing, muscle cells become
damaged. The first signs of the disorder may begin in early childhood and can
include delayed ability to sit, stand or walk as well as difficulties learning
to speak. Most children with Duchenne use a wheelchair by their early teens.
Life expectancy is around 30 years due to impaired muscle function, especially
of the heart and the muscles that allow a person to breathe, although medical
advancements are allowing patients to live longer than in previous decades.

Until recently, there were no therapies for Duchenne, but treatments are now
available that can improve outcome, especially when administered early.  New
therapeutics for treating Duchenne are currently in development or recently FDA
approved, including exon skipping drugs which can allow for functional dystophin
to be produced. Recent advancements in gene-based therapies have shown
encouraging results in treating other neurodegenerative diseases, including
spinal muscular atrophy, and are also promising for treatment of Duchenne.

“It took our family two long years to receive a proper diagnosis of Duchenne for
our son, Hawken. We missed an opportunity to provide the best care possible
during that time. Now, with some approved therapies and exciting gene therapies
in phase 3 trials, it’s important to catch Duchenne patients early to ensure the
best outcome,” said Debra Miller, founder and CEO of CureDuchenne.

Duchenne may occur in families without a family history of the disease. The
disorder is usually diagnosed in childhood through two tests. The first tests
the blood for a substance called creatine kinase — if a child has Duchenne, this
enzyme is detected at 10-to-100 times the normal level. The second test, a
genetic test, looks for changes in the DMD gene and can confirm the diagnosis in
most cases. Most children are not tested for Duchenne until symptoms begin and
muscles are already injured. Newborn screening would allow for detection before
muscle loss occurs.

“Diagnostic odysseys for Duchenne would be avoided and therapy could be
initiated early for these children,” said Parad. “Universally available newborn
screening is also non-discriminatory, ensuring a positive impact on health
disparities given every baby can be screened at no cost to families.”

The Brigham is home to groundbreaking research programs in newborn medicine. The
new Duchenne screening offering extends that legacy beyond research and into the
clinic. At the Brigham, parents of newborns will have the option to choose this
free newborn screening test that will detect elevated blood levels of the muscle
enzyme, creatine kinase, for their child. Currently, this test is not part of
the required Massachusetts Newborn Screen or required as part of any other
state’s routine newborn screening and will be performed by an independent
laboratory. If a baby’s creatine kinase level is elevated, the laboratory
performs additional testing to confirm the diagnosis, and the family is referred
to specialists in a new Duchenne newborn follow-up program that can provide
care.

“For most families, the test will bring peace of mind, reassuring them that
their baby’s muscles are healthy and not affected by Duchenne,” said Parad. “We
anticipate that perhaps only one baby born at the Brigham each year will be
found to have Duchenne — but for that one baby and the family, this test and the
opportunity to intervene early could be lifechanging.”

For more information related to the screenings, please email
DMDNBS@bwh.harvard.edu or call 617-732-8405.












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