NEWPORT BEACH, Calif., July 22, 2021 /PRNewswire/ -- CureDuchenne, a leading global nonprofit focused on finding and funding a cure for Duchenne muscular dystrophy, today launched a supplemental newborn screening initiative for Duchenne muscular dystrophy, a rare genetic disorder. The partnership between CureDuchenne and Brigham and Women's Hospital is the first program to offer 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," 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."
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.
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," said Parad. "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," said Debra Miller, founder and CEO of CureDuchenne.
Brigham and Women's Hospital 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.
About Duchenne muscular dystrophy
As the leading genetic killer of young boys, Duchenne affects more than 300,000 individuals living today. Those affected with Duchenne lose their ability to walk, feed themselves, and breathe independently, and may succumb to heart failure.
CureDuchenne is recognized as a global leader in research, patient care, and innovation for improving and extending the lives of those with Duchenne muscular dystrophy. CureDuchenne is dedicated to finding and funding a cure for Duchenne by breaking the traditional charitable mold through an innovative venture philanthropy model that funds groundbreaking research, early diagnosis, and community education. For more information on how to help raise awareness and funds needed for research, please visit www.cureduchenne.org.