NEW YORK — Nonprofit research organization CureDuchenne said on Thursday that it has partnered with Brigham and Women's Hospital to offer supplemental newborn screening for the rare genetic disorder Duchenne muscular dystrophy.
Through the initiative, Brigham and Women's will offer to parents of newborns a no-cost blood test that detects elevated levels of creatine kinase, an enzyme that is released from damaged muscle. If the test detects high levels of creatine kinase, additional testing is performed to confirm a diagnosis of Duchenne muscle dystrophy and the family will be referred to a follow-up program for the disease, if necessary.
The test would be performed at the same time as Massachusetts' required state newborn screen with a small amount of extra blood collected. However, according to CureDuchenne, it is not currently part of the required Massachusetts Newborn Screen and is not required as part of any other state's routine newborn screening procedures. It is performed by independent laboratories.
"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," Richard Parad, director of the Newborn Genomic Medicine Program at Brigham and Women's, said in a statement. "Identifying an affected child early could help us provide critical, early therapy to help preserve their muscle function."
Last month, Newport Beach, California-based CureDuchenne began working with BC Platforms on a newly launched muscular dystrophy data hub.