A Prospective Observational Patient Registry to Evaluate Disease Progression in Patients With ENPP1 Deficiency and Infantile-Onset ABCC6 Deficiency (GACI Type 2)

What this Trial Is About

Researchers are studying the natural progression of two rare genetic disorders: ENPP1 Deficiency and the infantile-onset form of ABCC6 Deficiency. These conditions affect bones, blood vessels, and other organs, with serious complications especially in infants. This international, multicenter observational registry aims to gather detailed genetic, biochemical, anatomical, and functional information over time to better understand how these diseases affect patients and their quality of life. Participants with confirmed genetic diagnoses of ENPP1 or infantile-onset ABCC6 Deficiency will be included regardless of current treatment. The study includes a Screening Period to collect past medical history and baseline data during routine care visits, followed by an Observational Period where data on disease progression and patient-reported outcomes are collected periodically. Optional blood draws may be done at routine visits to measure inorganic pyrophosphate levels. Throughout the study, participants will undergo standard assessments such as laboratory tests, imaging for calcification and bone health, and surveys on symptoms and quality of life. Data will be gathered annually up to 10 years to characterize disease changes and impacts. This registry does not involve any study treatments and focuses on monitoring patients during their usual medical care.

PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency