Study of Purinergic Compounds Role in Blood Vessel Problems in Pseudoxanthoma Elasticum Involving PXE Patients and Non-PXE Participants

What this Trial Is About

Pseudoxanthoma Elasticum PXE is a rare genetic disorder affecting mainly young adults, especially women, characterized by progressive tissue calcification in the skin, retina, and arteries. This condition can lead to serious complications including blindness, artery disease, strokes, tendon pain, kidney stones, and skin changes. Researchers are exploring the role of purinergic metabolism and specific enzymes related to calcium regulation to better understand PXE and identify new treatment approaches. The study evaluates purinergic compounds in PXE by measuring levels of adenosine ADO, pyrophosphate PPi, and related enzymes. Participants include people with PXE confirmed by clinical criteria and genetic mutation, as well as non-PXE patients. The study involves collecting blood samples for biological measurements and performing non-injected coronary and lower limb scans to assess calcifications. This is an interventional, non-randomized trial without masking. Participants will undergo blood collection using specific tubes and blotting paper for measuring PPi, ADO, and ectoenzyme activity. They will also receive scans of the coronary arteries and lower limbs to evaluate calcification. The main outcome is the potential role of ADO at inclusion, with secondary outcomes examining correlations between ADO, PPi, enzyme activity, and calcification scores. The trial is led by Centre Hospitalier Universitaire de Nice and will continue until early 2029.

Purinergic Compounds in Pseudoxanthoma Elasticum