Collaboration Details

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Title of Collaborative Activity:

Newborn Screening Pompe Pilot Study

Description of Collaborative Activity:

The purpose of this research initiative is establishing a resource to be used to support the development and rapid data collection of Pompe Disease to be added to the Recommended Uniform Screening Panel (RUSP) and to pilot the development and rapid data collection of a Pompe Disease newborn screening assay. This project supports the development of a Pompe Disease screening method in the newborn screening environment by establishing a pool of high throughput newborn screening laboratories (state and private) with the capacity to screen a large number of newborns in relatively short periods of time (12-18 months). These groups address follow-up and educational needs stemming from pilot studies for the newborn screening system.

Type of Collaborative Activity:

Research Initiative

Year the Collaborative Activity Originated:


NIH Participating Institutes/Centers/Office of the Director:


HHS Agency Collaborators on this Activity: