The Prevention of Systemic Ectopic Mineralization in Pseudoxanthoma Elasticum

What this Trial Is About

Researchers are evaluating the effect of etidronate on ectopic calcification in younger patients with Pseudoxanthoma Elasticum (PXE), a genetic condition causing abnormal calcium buildup in arteries, skin, and eyes. This trial aims to compare arterial calcification scores in the legs and carotid siphon after 24 months of treatment with etidronate versus placebo. The study also investigates secondary effects on eye health, skin changes, vascular function, quality of life, and safety. Participants are randomly assigned to receive either etidronate capsules or placebo in a cyclical regimen of 2 weeks on treatment followed by 10 weeks off, repeated over 24 months. Etidronate dosing is based on body weight at 20 mg/kg daily during treatment weeks. The study is double-blind and placebo-controlled to fairly evaluate the impact of etidronate compared to no active drug. During the trial, participants will visit the medical center four times for screening, baseline, 12-month, and 24-month assessments. Evaluations include low-dose CT scans of arteries, detailed eye exams with imaging, skin biopsies, blood tests, MRI scans, and walking tests. Researchers will monitor arterial calcification changes, eye and skin health, vascular measurements, cognitive function, cardiovascular events, quality of life, and safety labs. Total radiation exposure from scans is low, and safety procedures are in place to minimize risks throughout the study.

The Prevention of Systemic Ectopic Mineralization in Pseudoxanthoma Elasticum