NCT07323082 Purinergic Compounds in Pseudoxanthoma Elasticum
| NCT ID | NCT07323082 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Centre Hospitalier Universitaire de Nice |
| Condition | Pseudoxanthoma Elasticum |
| Study Type | INTERVENTIONAL |
| Enrollment | 45 participants |
| Start Date | 2026-01-20 |
| Primary Completion | 2027-01-15 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
This trial targets 45 participants in total. It began in 2026-01-20 with a primary completion date of 2027-01-15.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder, transmitted as an autosomal recessive trait, affecting approximately 1 in 50,000 people, predominantly women. It is characterised by progressive calcification of tissues rich in elastic fibres, particularly the skin, retina and arteries. It often begins in young adults and can eventually lead to central blindness, peripheral artery disease, strokes, tendon pain, recurrent kidney stones and visible skin changes. The diagnosis is based on clinical examination (skin papules, angioid streaks) and can be confirmed by biopsy or genotyping of the ABCC6 gene, whose mutation leads to extracellular ATP deficiency. This deficiency reduces the production of pyrophosphate (PPi), a natural inhibitor of calcification, thus promoting abnormal calcium deposits in tissues. To date, there is no curative treatment, but clinical trials are evaluating oral administration of PPi, with encouraging results. The role of purinergic metabolism is increasingly being explored in PXE. The cascade of conversion of ATP to adenosine (ADO) via ectonucleotidase pyrophosphatase 1 (ENPP1) and 5' ectonucleotidase (NT5E) indirectly regulates the activity of tissue-nonspecific alkaline phosphatase (TNAP), an enzyme that degrades PPi. An imbalance in this cascade could aggravate calcifications. The joint measurement of PPi, ADO and these enzymes, which has recently become possible, could not only refine our understanding of the disease, but also pave the way for new therapeutic strategies.
Eligibility 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.
Contact & Investigator
Frequently Asked Questions
Who can join the NCT07323082 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying Pseudoxanthoma Elasticum. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07323082 currently recruiting?
Yes, NCT07323082 is actively recruiting participants. Contact the research team at leftheriotis.g@chu-nice.fr for enrollment information.
Where is the NCT07323082 trial being conducted?
This trial is being conducted at Angers, France, Nice, France.
Who is sponsoring the NCT07323082 clinical trial?
NCT07323082 is sponsored by Centre Hospitalier Universitaire de Nice. The trial plans to enroll 45 participants.