We propose to organize an international conference entitled Newborn Screening for Neuromuscular Diseases: Improving Patient Outcomes and Evaluating Public Health Impact. The conference will be a unique opportunity to bring together experts and stakeholders in newborn screening (NBS) from pediatrics, neuromuscular disease, health policy research, state public health laboratories, national public health organizations, and industry (pharmaceutical companies and those developing newborn screening technologies) to develop standardized approaches for high-quality newborn screening for Pompe disease and Duchenne muscular dystrophy (DMD). The conference will be promoted among members and attendees of the Association of Public Health Laboratories Newborn Screening and Genetic Testing Symposium, neuromuscular specialty societies such as the Muscle Study Group, patient advocacy groups, and other pediatric, genetic, and neurologic societies. The conference will be held in an environment that will bring together senior leaders in neuromuscular research and NBS as well as NIH program staff, foundation and patient advocacy representatives along with junior/trainee investigators that will promote collaborations and encourage new ways of thinking about NBS. In addition, the meeting is designed to attract and mentor new junior scientists and trainees by introducing them to more established researchers and NBS policy experts to develop new initiatives of neuromuscular disease care following early diagnosis and to provide them with the opportunity to be part of developing key instruments for standardizing care. The over-arching goal of this meeting is to establish a roadmap for evaluating and improving meaningful clinical outcomes in Pompe disease and DMD. Among the products of the meeting will be a paper on the long- term follow-up of neuromuscular patients after diagnosis by NBS and publication of abstracts from posters presented and from invited talks given at the meeting.
This is an application for funds for an international conference which will bring together professionals from academia, foundations, federal agencies and industry to discuss research strategies and to prepare for collaborative studies of new treatments in patients diagnosed by newborn screening with Duchenne muscular dystrophy and Pompe disease. This meeting will focus on development of methods of following pre- symptomatic children with these neuromuscular disorders to ensure access to high-quality clinical care and to be able to measure the impact of early treatments. A major goal of the meeting is to attract and mentor new junior scientists and trainees in the scientific underpinning and methods of translational research in those identified with disease by newborn screening.
