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 can and must be supported. Unfortunately, it is a requirement that a treatment exist before a disease can be added to the federal Recommended Uniform Screening Panel (RUSP) in the United States. At the same time, 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. And, while there is no FDA-approved treatment for GM1, there are clinical trials with proven safety to treat neonates, ensuring that screening for GM1 would not be a wasted effort.
At this time, because there is no approved treatment for GM1, newborn screening is limited to newborn screening pilots and research studies. Some studies use genome sequencing and others use mass spectrometry. The current landscape for GM1 newborn screening is as follows:
Advocating for Newborn Screening in California
The Cure GM1 Foundation is pushing for newborn screening in California to help advance what is currently a diagnostic crisis for those babies unknowingly living with GM1. Because California has the largest birth cohort of any state in the United States, it holds the greatest hope for finding GM1 at a rate that supports trial enrollment and treatment access. See below for a background document explaining our push for newborn screening in California.
A breakthrough in Turkey for GM1 Newborn Screening
In Turkey, there was a national newborn screening pilot study that led to a set of twins being identified with GM1.
Other Screening Advancements
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.
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.