Purinergic compounds for people with pseudoxanthoma elasticum
Role of Purinergic Compounds in the Vascular Pathology of Pseudoxanthoma Elasticum
This trial will try purinergic compounds to see if restoring pyrophosphate-related signals can reduce tissue calcification in adults with genetically confirmed pseudoxanthoma elasticum.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 45 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Centre Hospitalier Universitaire de Nice Academic / other |
| Locations | 2 sites (Angers and 1 other locations) |
| Trial ID | NCT07323082 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Adults over 18 with a clinical diagnosis of PXE and a confirmed ABCC6 mutation who can give informed consent and attend study visits are ideal candidates.
Not a fit: People without an ABCC6 mutation, those taking drugs or supplements that affect adenosine/pyrophosphate metabolism, or patients with progressive bone, cancer, or inflammatory diseases are unlikely to benefit.
Why it matters
Potential benefit: If successful, the treatment could slow or reduce abnormal tissue calcification and lower the risk of vision loss and vascular complications in PXE patients.
How similar studies have performed: Early trials of oral pyrophosphate and related purinergic approaches have shown encouraging signals for reducing ectopic calcification, but long-term clinical benefit has not yet been established.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Angers and 1 other locations
- Angers University hospital — Angers, France (Not_yet_recruiting)
- Nice University hospital — Nice, France (Recruiting)
Study contacts
- Study coordinator: Georges LEFTHERIOTIS, PUPH
- Email: leftheriotis.g@chu-nice.fr
- Phone: 04 92 03 85 48
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.