FDA Authorizes First Newborn Screening Test for Duchenne Muscular Dystrophy
FDA has authorized the marketing of the first newborn screening (NBS) test for Duchenne Muscular Dystrophy (DMD). DMD is the most common type of muscular dystrophy, caused by the absence or abnormal function of the dystrophin protein and has an X-linked inheritance pattern. While a family history of DMD may be present, new mutations may arise resulting in affected males. Symptoms of progressive muscle weakness are not typically present at birth but rather begin to manifest between 3 and 5 years of age. DMD occurs in about 1 in 3,600 male live-born infants worldwide (females are rarely affected).
Because DMD will not be diagnosed at birth and CDC has advised that earlier diagnosis could lead to more personalized care, DMD is a candidate for NBS. The screening test measures the levels of Creatine Kinase-MM (CK-MM) isoenzyme from the dried blood heal stick, performed 24 to 48 hours after birth. Elevated levels of CK-MM may reflect DMD and other laboratory tests (e.g., genetic testing) are used for confirmation.
The FDA does point out that the new DMD NBS authorization means that laboratories can add this test to their current panels but does not mean such screening is now a requirement. The FDA further states that
there has been a national effort to harmonize screening practices across state newborn screening programs in the U.S. As a result of the collaboration between the federal Advisory Committee on Heritable Disorders in Newborns and Children and the American College of Medical Genetics, as well as governmental, non-governmental, advocacy and private partners, the Recommended Uniform Screening Panel (RUSP) was developed and adopted. The RUSP is a list of core and secondary conditions for screening newborns that the U.S. Department of Health and Human Services recommends for states to screen as part of their state universal newborn screening programs
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