Doug Treco, PhD, CEO of Inozyme Pharma, discusses ongoing clinical trials for INZ-701, an enzyme replacement therapy for the potential treatment of ENPP1 and ABCC6 Deficiencies.
ENPP1 Deficiency and ABCC6 Deficiency are rare metabolic diseases caused by mutations in the ENPP1 enzyme and ABCC6 gene, respectively. Both disorders are characterized by decreased levels of pyrophosphate and ATP production, leading to calcification in blood vessels, skin, joints, tendons, among other places. Patients with these deficiencies may experience pain and inflammation causing walking and mobility issues, as well as rickets and soft bones.
INZ-701 is an investigational, subcutaneously injected, enzyme replacement therapy being designed to circulate through the body, cleaving extracellular ATP into pyrophosphate and AMP (a precursor of adenosine).
A study examined the effects of INZ-701 in three cohorts of ENPP1 patients. As Dr. Treco explains, clinical trials for INZ-701 showed normal levels of pyrophosphate following treatment in patients with ENPP1 Deficiency. Improvement was also observed in biomarkers for bone growth and bone resorption. Patient reported outcomes were also consistent with sustained improvement. Safety and tolerability were also observed.
An identically designed study was conducted with ABCC6 Deficiency patients. In the first two cohorts of this trial, pyrophosphate levels were not normalized. However in the 3rd cohort, pyrophosphate levels were brought into the normal range. Improvements were observed in the carotid intima-media thickness with these patients. Thickening of the choroid layer of the eye was shown leading to visual function improvements.
To learn more about clinical trials for ENPP1 and ABCC6 Deficiencies, visit https://www.inozyme.com/clinical-studies/enpp1-deficiency-infant-trial#main
For more information on rare metabolic diseases, visit https://checkrare.com/diseases/metabolic-disorders/
