Clinical Trials

Studying ENPP1 Deficiency and ABCC6 Deficiency

We are enrolling patients with ENPP1 Deficiency or ABCC6 Deficiency (PXE) in the first clinical trials for a potential new treatment. With your participation, we can better understand this disease and help inform possible future treatment options.

ENPP1 Observational Study

Study Overview

The ENPP1 Prospective Observational Study is designed to look at how ENPP1 Deficiency presents and progresses from birth through adulthood.

The study will include people across all age groups. Researchers will follow participants over time to:


Map the course of ENPP1 Deficiency


Understand how PPi levels and other markers or outcomes can change


Gain insights to help diagnose and treat ENPP1 Deficiency

Participation in this study could help scientists better understand the disease and inform possible future treatment options.

Eligibility Criteria

Participants must:

  • Diagnosed with ENPP1 Deficiency (all age groups) or ABCC6 Deficiency (infantile onset) through genetic testing, clinical presentation, radiologic, or biochemical testing
  • Able to provide written consent by themselves or through a legal caregiver before research
  • Have a PPi level at screening that meets the requirement
  • Willingness to provide relevant medical records and complete all aspects of the study

If enrolled, participants will complete a number of tests and visits throughout the study. These tests and visits may be time-consuming and/or require assistance from a caregiver. A researcher will thoroughly explain all requirements before enrollment.

Find a Study Site

Contact us at

Inozyme Clinical Trial Information