It is well established that two genes, ENPP1 and ABCC6, play key roles in a critical mineralization pathway and that defects in these genes lead to abnormal mineralization. We are initially focused on developing a novel therapy to treat the rare genetic diseases of ENPP1 and ABCC6 deficiencies.
We are developing therapies to treat patients affected by diseases involving low pyrophosphate, or PPi, and adenosine, beginning initially with rare genetic diseases of ENPP1 deficiency and ABCC6 deficiency. The spectrum of manifestations of ENPP1 deficiency includes an infantile phase, a pediatric phase and an adult phase, formerly described as Generalized arterial calcification of infancy (GACI)/Autosomal-recessive hypophosphatemic rickets type 2 (ARHR2).
ABCC6 deficiency can lead to a vascular calcification condition resembling the acute infantile form of ENPP1 deficiency in infants and pseudoxanthoma elasticum (PXE) in older patients.
Patients / HCPs
We believe people living with mineralization disorders deserve effective therapies. That’s why we’re working with scientists, physicians, and patients to develop breakthrough treatments for patients affected by debilitating diseases of abnormal mineralization.Learn More
At Inozyme, we are always looking for talented individuals to join our team! If you thrive in an entrepreneurial environment where you can make a real difference in people’s lives, we encourage you to review our open positions.Learn More