NCT04868578

PPI Supplementation to Fight ECtopIc Calcification in PXE

Efficacy of PyROphosPHate Supplementation to Fight ECtopIc Calcification in PseudoXanthoma Elasticum - PROPHECI-PPI Study

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 99 (estimated)
• Sponsor: Centre Hospitalier Universitaire de Nice · Academic / Other
• Sex: All
• Age: 18 Years – 65 Years
• Healthy volunteers: Not accepted

Summary

Pseudoxanthoma elasticum (PXE) is a rare inherited metabolic disorder (OMIM 264800, frequency 1/25000) characterized by progressive ectopic calcification of connective tissues. PXE mainly affects the skin (inesthetic papules and plaques in the skin folds), the retina (central blindness), the vasculature (peripheral arterial occlusive disease and stroke) and the renal system (renal lithiasis) in adulthood. Although rarely, early lethal forms have been reported. This chronic and highly disabling condition results from a loss of function of the gene encoding for the ABCC6 membrane transporter primarily expressed in the hepatocytes and renal tubular cells. Recently, it has been reported that PXE was characterized by a 50-60% decrease in the plasma level of inorganic pyrophosphate (PPi), a major physiological anti-calcifying factor. PXE is an incurable disease which therapeutic options are limited to symptomatic treatments to stem the devastating effect of the ectopic calcifications. Recently, encouraging proof of concept studies with animals PXE models and healthy volunteers have shown that, contrary to what was initially reported and thought, the oral administration of PPi salts are able to increase PPi plasma levels, opening up new therapeutic perspectives in PXE. Therefore, we propose to perform the first Phase II randomized controlled trial (RCT) to evaluate the safety and efficacy of a daily and oral administration of PPi salts against placebo in PXE patients.

Conditions

• Pseudoxanthoma Elasticum

Interventions

Type	Name	Description
DIETARY_SUPPLEMENT	study treatment PPI	patient take PPI every day during 12 months
DIETARY_SUPPLEMENT	Placebo comparator	patient take PPI placebo every day during 12 months

Timeline

• Start date: 2022-12-13
• Primary completion: 2026-12-13
• Completion: 2027-09-01
• First posted: 2021-05-03
• Last updated: 2024-05-17

Locations

2 sites across 1 country: France