Most children diagnosed with GM1 have the infantile form (Type 1), the most severe subtype. By the time symptoms appear, irreversible neurological damage has already begun. Newborn screening offers the only realistic path to identifying GM1 before that treatment window closes.
A structural barrier stands in the way. The federal Recommended Uniform Screening Panel (RUSP) requires an approved treatment before adding a condition to standard newborn screening. Without early identification, clinical trials struggle to enroll patients at the right disease stage. Yet active trials have established safety data in young children, and a validated newborn screening assay for GM1 already exists. Screening today would not be a wasted effort.
Because no treatment for GM1 has been approved yet, standard newborn screening for the disease does not exist in the United States. Pilots and research studies are building the evidence base needed to change that. Programs vary in method: some use mass spectrometry enzyme assays, others use genomic sequencing. Here is the current screening landscape:
Advocating for Newborn Screening in California
The Cure GM1 Foundation is pushing for newborn screening in California. GM1 is a diagnostic crisis: most affected babies are not identified until symptoms appear, when irreversible damage has already begun. California has the largest birth cohort of any state, giving it the best chance to find GM1 cases at a rate that supports trial enrollment and treatment access. See the one-pager below for our case for California newborn screening.
A breakthrough in Turkey for GM1 Newborn Screening
A national newborn screening pilot in Turkey identified a set of twins with GM1 before symptoms appeared, demonstrating that early detection is possible.
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 study. It will screen newborns for over 500 conditions not included in standard screening, with a planned launch in early 2026.
GM1 is not yet included in the BEACONS or Baby Screen+ newborn screening studies, as both require an approved treatment for inclusion. Both programs could expand to include GM1 once a treatment is approved.
Publications
Cure GM1 funded the development and optimization of a mass spectrometry newborn screening assay for GM1 gangliosidosis, in collaboration with Dr. Michael Gelb and the Gelb Laboratory at the University of Washington. Key publications from this work are below.