A $250,000 award from the Parent Project Muscular Dystrophy (PPMD) will support the establishment of Baby Duchenne, a collaborative clinical research network for babies with Duchenne muscular dystrophy (DMD) diagnosed via newborn screening (NBS) programs in New York state. Under the direction of Bo Hoon Lee, MD, from…

Various factors influenced the results of the creatine kinase-MM (CK-MM) blood test used to screen infants for Duchenne muscular dystrophy (DMD), according to a large study. Factors that affected CK-MM levels included age at blood sample collection, gestational age, birth weight, sex, ethnicity, and seasonal temperature, data showed. Newborn…

Using the results of a New York State pilot testing program as evidence, Parent Project Muscular Dystrophy (PPMD) submitted its proposal seeking the addition of Duchenne muscular dystrophy (DMD) to the nationwide newborn screening panel. The proposal nominates DMD for inclusion in the Recommended Uniform Screening Panel or RUSP…

The Newborn Screening Pilot program run in New York by Parent Project Muscular Dystrophy (PMDD) is now complete, having screened more than 36,000 babies across the state for a muscular dystrophy over the last two years. Significantly high levels of creatine kinase, an enzyme released by damaged muscle cells that can indicate…

CureDuchenne has teamed up with Brigham and Women’s Hospital, in Boston, to launch the nation’s first free newborn screening initiative for Duchenne muscular dystrophy (DMD). The partnership establishes Brigham and Women’s as the only U.S. birth hospital to offer parents the choice of screening their new baby for…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism.   “The hardest…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

Parent Project Muscular Dystrophy (PPMD) will use PerkinElmer‘s recently federally authorized test to aid newborn screening for Duchenne muscular dystrophy (DMD) in a newly launched pilot program in New York state. Results from the two-year Newborn Screening Pilot for Duchenne Muscular Dystrophy, launched in collaboration with consortia…

The U.S. Food and Drug Administration (FDA) has authorized use of the first test intended to facilitate newborn screening for Duchenne muscular dystrophy (DMD). “Diagnostics that can safely and effectively screen newborns can help health care professionals identify and discuss potential treatment options with parents and caregivers before symptoms…