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Press Releases

July 22, 2021

Screening for Duchenne Muscular Dystrophy Now Available for All Babies Born at the Brigham

BOSTONBrigham 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 or call 617-732-8405.