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.