Lysosomal Storage Disorders Collaborative

Principal Investigator: Melissa Wasserstein, MD 

Institution: Mount Sinai School of Medicine

Project Start Date: September 4, 2012

Project End Date: May 31, 2017

Project Uses: CLPR, VRDBS, LDPR

VRDBS, LDPR, and R4S

“LSDs: A Pilot NBS and Examination of the Associated Ethical Legal and Social Issues”

Newborn screening for several LSDs (Fabry, Gaucher, Niemann Pick Types A and B, and Pompe) has been proposed in several states. Each of these diseases has a broad phenotypic spectrum ranging from severe infantile-onset disease to adult-onset, milder phenotypes. Thus, newborn screening for these disorders presents a unique set of complex issues that require investigation prior to the initiation of mass newborn screening. These issues include determining the clinical and diagnostic accuracy of the screening assay, investigating how to correctly predict phenotype in asymptomatic newborns, and developing algorithms to assist with clinical decision-making about if and when to initiate therapy. In addition, there are novel ethical, legal, and social issues associated with testing infants for potentially later-onset disorders. This proposal will explore these issues by implementing a pilot newborn screen in approximately 80,000 infants born in high birth rate, ethnically diverse New York City hospitals in order to evaluate the analytic and clinical validity of the screening test and to determine disease incidence in an ethnically diverse population. Screening data will be shared with the Newborn Screening Translational Research Network (NBSTRN). Natural history data generated from this research and from existing disease-specific clinical databases will also be shared with the NBSTRN, with the goal of developing models to predict age of onset of disease over the lifespan in order to optimize treatment and avoid premature use of costly therapies. Prospective clinical, laboratory, and radiographic data will be collected and analyzed in order to develop evidence-based algorithms for the diagnosis and treatment of these rare disorders. In addition, the unique ethical, legal, and psychosocial issues that are associated with screening for these disorders will be explored.