Actively Recruiting
Role of Purinergic Compounds in the Vascular Pathology of Pseudoxanthoma Elasticum
Led by Centre Hospitalier Universitaire de Nice · Updated on 2026-04-24
45
Participants Needed
2
Research Sites
104 weeks
Total Duration
On this page
AI-Summary
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.
CONDITIONS
Brief Title
Purinergic Compounds in Pseudoxanthoma Elasticum
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male or female
- Age over 18 years
- Covered by social security
- Informed and signed informed consent form
- PXE patients with diagnosis based on current clinical criteria and ABCC6 mutation
You will not qualify if you...
- Treatment with bisphosphonates, vitamin K antagonists, or supplements containing calcium, phosphates, magnesium, zinc, or iron
- Treatments that may alter adenosine levels such as caffeine, salbutamol, or beta-blockers
- Progressive bone diseases including osteoporosis, chondrocalcinosis, or gout
- Progressive and/or treated cancerous diseases
- Progressive and/or treated inflammatory or autoimmune diseases
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 1 day
Participants undergo blood sample collection and non-injected coronary and lower limb scans to measure purinergic compounds and assess vascular pathology.
1 visit (in-person)
Trial Site Locations
Total: 2 locations
1
Angers University hospital
Angers, France
Not Yet Recruiting
2
Nice University hospital
Nice, France
Actively Recruiting
Research Team
G
Georges LEFTHERIOTIS, PUPH
L
Luc Froissant
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
PARALLEL
Primary Purpose
BASIC_SCIENCE
Number of Arms
2
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