At this time, since there is no approved treatment for GM1, newborn screening is limited to newborn screening pilot and research studies. Some studies use genome sequencing 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 is no longer enrolling. The study screen includes 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 or the Baby Screen+ newborn screening studies due to not having an approved treatment. It may be possible that these studies can be expanded to include GM1 in the future.
Without An Approved Treatment, Newborn Screening for GM1 is still needed
At Cure GM1, we are painfully aware that the majority of diagnoses for GM1 are for Type 1 infantile GM1. Since GM1 is primarily an infantile condition and a fatal disease, we believe newborn screening should be supported since there are clinical trials with proven safety to treat neonates. Without newborn screening for GM1, it is very difficult to prove that a treatment is efficacious due to late diagnoses and the severity and the rapid progression of the disease. Treatment of newborns is likely necessary and a trial is also being planned for fetal gene therapy.
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.