Inozyme announces peer-review publication on prevalence of ENPP1 deficiency

Inozyme Pharma announced the publication of an article titled "Estimation of ENPP1 Deficiency Genetic Prevalence Using a Comprehensive Literature Review and Population Databases" in the Orphanet Journal of Rare Diseases. Leading disease experts Carlos Ferreira, M.D., of the National Institutes of Health and Frank Rutsch, M.D., of Munster University Children’s Hospital, together with Genomenon, an AI-driven genomics company, analyzed the latest genomics data and found the estimated prevalence of ENPP1 Deficiency to be 1 in 64,000 pregnancies, more than tripling the prior estimate. "Our medical field team’s disease awareness, education, and patient identification efforts suggested that the number of patients with ENPP1 Deficiency has been vastly underestimated. These new data provide an independent and thorough calculation supporting our observations and highlight the urgent need for a therapeutic option," said Axel Bolte, MSc, MBA, Inozyme’s co-founder, president and chief executive officer.