Purinergic compounds for people with pseudoxanthoma elasticum

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This interventional trial will give adults with clinically and ABCC6‑confirmed pseudoxanthoma elasticum purinergic compounds intended to restore extracellular ATP/pyrophosphate balance. Participants will have regular blood sampling and imaging (CT/scanner) along with skin and retinal examinations to monitor calcification and safety. The protocol excludes people on medications or supplements that alter adenosine levels and those with progressive bone, cancer, or inflammatory diseases. Outcomes will include change in tissue calcification measures and clinical signs related to PXE over the treatment period.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Male or female,
* Age \>18 years
* Covered by social security,
* Informed and having signed the informed consent form.

PXE patients:

\- with PXE defined according to current clinical criteria for PXE (REACT-PXE and PNDS consensus) and with an ABCC6 mutation.

Exclusion Criteria:

* Patients treated with bisphosphonates, vitamin K antagonists, and dietary supplements containing calcium, phosphates, magnesium, zinc, or iron.
* Treatments likely to alter adenosine levels (caffeine, salbutamol, beta-blockers, etc.).
* Progressive bone diseases (osteoporosis, chondrocalcinosis, gout, etc.).
* Progressive and/or treated cancerous diseases.
* Progressive and/or treated inflammatory or autoimmune diseases.

Where it's running

• Nice University hospital
  Nice, France Recruiting
• Angers University hospital
  Angers, France Not yet recruiting

Study contacts

• Study coordinator: Georges LEFTHERIOTIS, PUPH
• Email: leftheriotis.g@chu-nice.fr
• Phone: 04 92 03 85 48

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Tracking PXE-related changes at the back of the eye over time

  This study will see if repeated high-resolution eye imaging can track changes in Bruch's membrane, choriocapillaris blood flow, and retinal atrophy in people with PXE.

  Recruiting University Hospital, Bonn · Bonn, North Rhine-Westphalia · NCT07048106

• Choriocapillaris blood flow differences in people with pseudoxanthoma elasticum versus healthy adults

  We will test whether a noninvasive eye scan (OCT angiography) shows reduced choriocapillaris blood flow in adults with pseudoxanthoma elasticum compared with matched healthy adults.

  Recruiting University Hospital, Angers · Angers · NCT07006649

• Optimizing recruitment and follow-up for people with pseudoxanthoma elasticum

  This project will try new ways of recruiting and following people with PXE treated at the national reference center to see if care and monitoring improve.

  Recruiting University Hospital, Angers · Angers · NCT06636344

• Preventing calcification in patients with Pseudoxanthoma Elasticum

  This study is testing if a medication called etidronate can help young adults with Pseudoxanthoma Elasticum reduce harmful calcification in their arteries over two years.

  Recruiting Phase 3 UMC Utrecht · Utrecht · NCT05832580

• Using PPI to Treat Pseudoxanthoma Elasticum

  This study is testing if taking a supplement called pyrophosphate can help adults with Pseudoxanthoma Elasticum reduce harmful calcification in their bodies.

  Recruiting at 2 sites Centre Hospitalier Universitaire de Nice · Angers and 1 other locations · NCT04868578

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.