A nonprofit organization, Parent Project Muscular Dystrophy (PPMD), has announced its submission of a nomination package to add Duchenne muscular dystrophy (DMD) to the Recommended Uniform Screening Panel (RUSP) for consideration by the Advisory Committee on Heritable Disorders in Newborns and Children, according to a press release by the organization.
For decades, PPMD has devoted time and effort to prepare for the implementation of wide-scale newborn screening for DMD. A key part of this process was the development and implementation of a large pilot study that screened 36,000 babies in the state of New York for over 2 years. Through this newborn screening exercise, 4 neonates were identified to have DMD or Becker muscular dystrophy and 1 was identified as a carrier.
The submission of a RUSP nomination package by PPMD is intended to kickstart the organization’s goal of implementing newborn screening for DMD nationwide.
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“While every state chooses which diseases are included in that state’s newborn screening panel, many states use the RUSP to guide their decisions,” Niki Armstrong, the newborn screening program manager for the organization, said. “Advocacy at the state level will be important to PPMD ongoing [newborn screening] efforts to promote implementation within each state.”
Many partners have provided letters of support for this project in recognition of the importance of diagnosing DMD as early as possible. Evidence strongly suggests that early treatment can improve patient outcomes. The step to submit a RUSP nomination package involved extensive work, including the reviewing and compiling of evidence on all available therapies. Many experts in DMD and newborn screening have kindly contributed to these efforts in the last few years.
“Newborn screening is the most effective way to ensure that infants with Duchenne are diagnosed early, when therapies will likely be the most beneficial,” Pat Furlong, founding president and chief executive officer, said.
Parent Project Muscular Dystrophy submits RUSP nomination package for Duchenne muscular dystrophy. News release. Parent Project Muscular Dystrophy; June 30, 2022.