Inozyme Pharma Announces JBMR Plus Publication Demonstrating Real-World Impact of ENPP1 Deficiency

Core Insights - The publication of a comprehensive study on ENPP1 Deficiency reveals its severe cardiovascular and musculoskeletal complications, emphasizing the need for early diagnosis and effective treatments [1][2][4] Company Overview - Inozyme Pharma, Inc. is a clinical-stage biopharmaceutical company focused on developing therapeutics for rare diseases affecting bone health and blood vessel function [1][6] - The company's lead investigational therapy, INZ-701, is designed to address the underlying causes of ENPP1 Deficiency and is currently in late-stage clinical development [6] Disease Characteristics - ENPP1 Deficiency manifests as Generalized Arterial Calcification of Infancy (GACI) and Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2), with significant age-dependent progression [3][5] - Of the 84 individuals analyzed, 51 had GACI, with only 19 surviving beyond infancy, highlighting the disease's severity [3][9] - By age 55, over 95% of patients will experience cardiovascular, musculoskeletal, and other organ complications, with 60% showing arterial calcification within the first 3 months of life [9] Clinical Implications - The findings indicate that ENPP1 Deficiency is a progressive condition requiring multidisciplinary care, with ongoing complications for those who survive infancy [4][5] - Approximately 70% of patients develop serious musculoskeletal complications by age 10, significantly impairing quality of life [9]