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Purinergic Compounds in Pseudoxanthoma Elasticum

NCT07323082 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 45

Last updated 2026-04-24

No results posted yet for this study

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.

Conditions

  • Pseudoxanthoma Elasticum

Interventions

BIOLOGICAL

supplementary tubes

* One 2.5 ml EDTA blood tube for PPi measurement. * Special blotting paper for collecting blood drops for ADO measurement. * 7.5 ml whole blood for ectoenzyme measurement

RADIATION

SCANNER

non-injected coronary and lower limb scanner

Sponsors & Collaborators

  • Centre Hospitalier Universitaire de Nice

    lead OTHER

Study Design

Allocation
NON_RANDOMIZED
Purpose
BASIC_SCIENCE
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-01-20
Primary Completion
2027-01-15
Completion
2029-01-15

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07323082 on ClinicalTrials.gov