The partnership offers supplemental newborn screening for Duchenne in a clinical setting. Early diagnosis provides families the opportunity to take advantage of therapeutic interventions that could improve outcomes.
“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. Identifying an affected child early could help us provide critical, early therapy to help preserve their muscle function.”
— Richard Parad, MD, MPH, a neonatologist and director of the Newborn Genomic Medicine Program in the Department of Pediatric Newborn Medicine at the Brigham
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 disorder early, allowing families to take advantage of therapeutic interventions before symptoms progress, CureDuchenne notes in a media release.
Researchers and clinicians have been working for 20 years toward a genetic screening for Duchenne and yet the average age of diagnosis has remained at approximately four years old.
“Diagnostic odysseys for Duchenne would be avoided and therapy could be initiated early for these children,” Parad says. “Universally available newborn screening is also nondiscriminatory, ensuring a positive impact on health disparities given every baby can be screened at no cost to families.”
“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 patients with Duchenne early to ensure the best outcome. We are very proud to partner with the prestigious Brigham and Women’s Hospital.”
— Debra Miller, founder and CEO of CureDuchenne
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, per the release.
[Source(s): CureDuchenne, PR Newswire]