Company: Amicus therapeutics
Liaison(s): Jeff Castelli, Jayne Gershkowitz, Brandon Wustman
Amicus Therapeutics is a Cranbury, New Jersey based biopharmaceutical company discovering and developing next-generation medicines to treat a range of rare and orphan diseases, with a focus on improved therapies for lysosomal storage diseases (LSDs). LSDs are a family of rare genetic metabolic disorders that are chronic, degenerative conditions which are usually fatal. Amicus is interested in understanding the current status of newborn and related screening practices for LSDs in the United States. Of particular interest is how these practices relate to patient populations and diagnostic trends. The Amicus TMP team was tasked with assessing the feasibility of implementing newborn and atrisk population screening programs for LSDs. In conjunction with the Newborn Screening Branch of the U.S. Centers for Disease Control and Prevention, the team conducted a nation-wide survey to capture the attitudes of state health departments towards the mandated screening of LSDs in newborns. The team also conducted primary research to determine the mechanics of screening both family members of affected children and high-risk clinical populations. In their analysis, the team explored ethical concerns, technological hurdles, market dynamics, and future trends that may affect screening programs. Ultimately, the team recommended strategies for Amicus Therapeutics to facilitate national screening procedures and increase the detection of individuals with lysosomal storage diseases.