Inozyme Pharma, Inc. highlighted the inclusion of Generalized Arterial Calcification of Infancy (GACI), which is caused by mutations in the ENPP1 or ABCC6 genes, in the Genomic England's Generation Study. This research initiative, embedded within the UK's National Health Service (NHS), was developed to advance early detection and treatment of rare genetic conditions, with the goal of setting a new standard for newborn screening programs. The Generation Study is scheduled to begin in late 2023, with the goal of sequencing the genomes of more than 100,000 infants and paving the way for potential widespread implementation of whole-genome sequencing in newborn screening. Genomics England collaborated with NHS experts as well as scientists, healthcare professionals (HCPs), and people living with rare conditions to select 223 individual conditions for its current screening program.

GACI is a rare genetic disorder that is fatal in 50% of affected infants by six months of age due to severe and pathological vascular calcification and neointimal proliferation (overgrowth of smooth muscle cells inside blood vessels). The disease can lead to the potential failure of major organs, such as the heart, lungs, and kidneys, and it is caused by ENPP1 and ABCC6 Deficiencies, rare disorders for which there are currently no approved treatments. Inozyme is developing INZ-701, an enzyme replacement therapy, for the treatment of rare disorders like GACI that impact the vasculature, soft tissue, or skeleton.