Study of Pyrophosphate Supplement to Reduce Ectopic Calcification in Adults With Pseudoxanthoma Elasticum

What this Trial Is About

This research investigates Pseudoxanthoma Elasticum PXE, a rare inherited metabolic disorder causing progressive calcification in connective tissues that affects the skin, eyes, blood vessels, and kidneys. PXE results from a gene loss-of-function that lowers plasma levels of inorganic pyrophosphate PPi, an important anti-calcifying molecule. The trial aims to evaluate the safety and effectiveness of daily oral PPi salt supplements compared to placebo in patients with PXE. Participants in this study will be randomly assigned to receive either PPi supplement capsules or placebo capsules once daily for 12 months. This double-blind trial compares these two groups to assess whether PPi supplementation can impact disease progression. The study is led by the Centre Hospitalier Universitaire de Nice and includes careful monitoring and follow-up during the treatment period. Throughout the trial, participants will undergo clinical evaluations focusing on arterial calcification scores after 12 months, along with assessments of skin and eye changes and vascular health. The research team will monitor safety, symptoms, and treatment adherence during regular visits. The total participation lasts for the 12-month treatment period, and progress will be measured using detailed clinical observations and imaging.

PPI Supplementation to Fight ECtopIc Calcification in PXE