At this time, since there is no approved treatment for GM1, newborn screening is limited to newborn screening pilot and research studies. Several studies use genetic testing and others use mass spectrometry. The current landscape for GM1 newborn screening is as follows:
The BabySeq Project is a research study exploring the use of genome sequencing in newborns. To learn more, see the BabySeq page.
ScreenPlus: A Comprehensive, Flexible, Multi-Disorder Newborn Screening Program
ScreenPlus is a voluntary newborn screening research study that can help identify certain rare diseases in newborns as early as possible.
The GUARDIAN study is a free study that screens newborns for additional genetic conditions not currently included in standard newborn screening.
A research study based in North Carolina, Early Check offers additional free screening for around 200 serious health conditions in newborn babies, including GM1.
Sunshine Genetics is Florida’s state-funded genomic newborn screening (gNBS) research study. This study will screen Floridian newborns for over 500 genetic conditions not currently screened as part of standard or traditional newborn screening. Sunshine Genetics will kick off in early 2026.
GM1 is not currently included in the BEACONS newborn screening study due to not having an approved treatment. It may be possible that this study will be expanded in the future.
Publications
Cure GM1 is proud to have collaborated with University of Washington and the Gelb Laboratory to optimize and deploy a mass spectrometry newborn screening assay.