Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.
Norma P TavakoliDorota GruberNiki ArmstrongWendy K ChungBreanne MaloneySunju ParkJulia WynnCarrie Koval-BurtLorraine VerdadeDavid H TegayLilian L CohenNatasha ShapiroAnnie KennedyGarey NoritzEmma CiafaloniBarry WeinbergerMarty EllingtonCharles SchleienRegina SpinazzolaSunil SoodAmy BrowerMichele Lloyd-PuryearMichele Caggananull nullPublished in: Annals of clinical and translational neurology (2023)
This study demonstrated that the state NBS program infrastructure and screening technologies we used are feasible to perform NBS for DMD. With an increasing number of treatment options, the clinical utility of early identification for affected newborns and their families lends support for NBS for this severe disease.