This two-day international meeting will bring together experts in newborn screening, pediatrics, and neuromuscular disease as well as other public health stakeholders to review key topics in newborn screening for Pompe disease (already included in the Recommended Universal Screening Panel) and Duchenne muscular dystrophy (DMD) where pilot screening has already begun in the US.
Clinicians caring for Pompe disease and DMD patients are well aware of the morbidity associated with delayed diagnosis and late access to available and effective therapies. While early diagnosis in the form of newborn screening (NBS) will avoid poorer outcomes associated with late diagnosis, there are still many gaps in our knowledge of how to appropriately follow and care for children who are presymtomatically diagnosed.
The neuromuscular providers involved in the care of symptomatic Pompe disease and DMD patients are in an excellent position, given their neurologic expertise and existing multidisciplinary clinics, to be involved in the care of those children who are diagnosed presymptomatically with Pompe disease and DMD by NBS. The purpose of this meeting is to help clinicians address gaps in their awareness and knowledge of: 1) the process of population based newborn screening for Pompe disease and DMD, 2) the evidence supporting practice guidelines for clinical follow-up of presymptomatic infants and children with Pompe disease and DMD, and 3) the clinical infrastructure required to support ongoing collection of data and evidence to improve clinical outcomes of Pompe disease and DMD.
The primary goal of this meeting will be addressing the components of 1) laboratory screening and 2) short- and long-term clinical follow-up needed to ensure improved health outcomes in Pompe disease and DMD. We will also discuss how these programs can be implemented to efficiently collect information about the public health and societal impact of population-based neuromuscular screening programs.