Earlier this month, I testified on behalf of PPMD and the national Duchenne community before the Advisory Committee on Heritable Disorders in Newborns and Children – the U.S. federal advisory committee on newborn screening.
For the last 3 years, PPMD has convened experts in both Duchenne and Newborn Screening (NBS) to build a national Duchenne NBS infrastructure aimed at developing the evidence to support Duchenne NBS. The Duchenne NBS effort has established the partnerships required to research, pilot and implement nationwide NBS for Duchenne. Through these efforts we have begun to create information technology tools to support the development of screening and diagnosis technologies, as well as to enable longitudinal studies to understand the health outcomes of newborns diagnosed and treated early. Once developed and implemented, the tools will be available for population-based NBS and state NBS program implementation. We have also been active in legislative efforts around the reauthorization of the Newborn Screening Save Lives Act and federal funding for U.S. NBS.
Last month, PPMD convened a meeting of our Duchenne pharmaceutical industry partners. The intent of the meeting was to provide attendees with the background needed to define next steps for Duchenne newborn screening and to outline a meaningful collaboration.
PPMD will continue to remain committed to supporting infrastructure and leading policy efforts around Duchenne NBS and we are currently pleased to report that the Duchenne industry community has expressed a desire to move a pilot forward as a consortia and planning for this program is now underway.
The Duchenne community is hopeful. But we also know that we have an extraordinary amount of work that we must do to transform our existing national Duchenne care and support infrastructure into one that fits into the public health model for NBS. And we are working hard to accomplish this. We are committed to paving a path forward for Duchenne NBS in the United States.