October 18, 2018
Newborn Screening Update for Duchenne Muscular Dystrophy
The Duchenne muscular dystrophy (DMD) community took two big steps toward newborn screening this month. Newborn screening programs are important because they allow early diagnosis even before symptoms are observed. Newborn screening facilitates early treatment and rapid development of new therapies for infants everywhere.
When infants are born in the United States, a heel prick blood sample is taken onto a paper card. The card is tested for a set of metabolic and genetic disorders at a public health laboratory. Once a disorder has been added to the national screening panel, each state determines whether to add it to their state testing card. You can learn more about newborn screening at http://www.babysfirsttest.org/.
Two major DMD patient advocacy groups shared news about their work to support newborn screening for DMD. Parent Project Muscular Dystrophy (PPMD) and CureDuchenne are working on different ways to make newborn screening a reality for everyone.
PPMD announced the launch of their newborn screening pilot in New York State (https://www.parentprojectmd.org/ppmd-launches-duchenne-newborn-screening-pilot-in-new-york-state/). Their pilot is a collaboration between industry, New York State Department of Health, and the Centers for Disease Control. The pilot study will collect data needed to add DMD to the national and state panels. Once DMD is added to the state testing cards, then every infant will be tested for free.
CureDuchenne announced a new partnership with Baebies to develop newborn screening tests for DMD (https://www.cureduchenne.org/press-release/cureduchenne-partners-with-baebies-to-accelerate-newborn-screening-for-duchenne-muscular-dystrophy/). These tests would be ordered by a doctor and paid for by health insurance. This would provide testing for infants born before the national panel is changed, or for infants born in places that do not have DMD on the state card.
The DMD community is supported by many strong and devoted advocacy groups. Everyone is committed to supporting families, advancing research, and thinking creatively about how to help people with DMD.