Pseudoxanthoma ElasticumPURI-PXENCT07323082
Purinergic Compounds in Pseudoxanthoma Elasticum
A study testing supplementary tubes and SCANNER in people with Pseudoxanthoma Elasticum, run by Centre Hospitalier Universitaire de Nice at 2 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Pseudoxanthoma Elasticum
- What is being tested?
- supplementary tubes and SCANNER
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 45 participants
- Where
- 2 sitesFrance
- Study dates
- 20 Jan 2026to 15 Jan 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
France2 sites, 2 recruiting
- Not yet recruiting
Angers University hospital
Angers
Ludovic Martin, 02.41.35.55.76, martin.l@chu-angers.fr
helene Huneau, humeau.h@chu-angers.fr
- Recruiting
Nice University hospital
Nice
georges Leftheriotis, 04 92 03 85 48, leftheriotis.g@chu-nice.fr
Georges Leftheriotis
About this study
Official title: Role of Purinergic Compounds in the Vascular Pathology of Pseudoxanthoma Elasticum
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
- Being tested
- supplementary tubes, SCANNER
- Keywords
- ppi, ADO, vascular pathology
- Medical subject headings
- Pseudoxanthoma Elasticum
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
supplementary tubesBiological
- 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
SCANNERRadiation
non-injected coronary and lower limb scanner
| Study group | Role | What they receive |
|---|---|---|
| PXE Patient | Experimental | PXE Patient Receives: Biological: supplementary tubes |
| NON PXE Patient | Other | NON PXE Patient Receives: Biological: supplementary tubes; Radiation: SCANNER |
What is being measured
The primary outcome is the main question the study is designed to answer.
potential role of the ADO
mesure of concentration
Measured: at inclusion
Secondary outcomes (2)
correlation between ADO, PPi and ectoenzymatic activities
correlation between concentrations
Measured: at inclusion
correlation between ADO, PPi and calcification score
correlation between concentrations and calcification score (%)
Measured: at inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Jan 2026
- Study start20 Jan 2026
- Primary completion15 Jan 2027 (estimated)
- Study completion15 Jan 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pseudoxanthoma ElasticumStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 45 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nice
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07323082
- Sponsor's protocol ID
- 25-PP-14
- Acronym
- PURI-PXE
- Status last verified
- Apr 2026
- First submitted
- 16 Dec 2025
- Last updated
- 24 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Role of Purinergic Compounds in the Vascular Pathology of Pseudoxanthoma Elasticum
- ClinicalTrials.gov ID
- NCT07323082
- Acronym / sponsor ID
- PURI-PXE / 25-PP-14
- Conditions
- Pseudoxanthoma Elasticum
- Keywords
- ppi, ADO, vascular pathology
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 45 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire de NiceUniversity, hospital or other
- Study start
- 20 Jan 2026 (actual)
- Primary completion
- 15 Jan 2027 (estimated)
- Study completion
- 15 Jan 2029 (estimated)
- First posted
- 7 Jan 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| PXE Patient | Experimental | Biological: supplementary tubesPXE Patient |
| NON PXE Patient | Other | Biological: supplementary tubes, Radiation: SCANNERNON PXE Patient |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- Male or female,
- Age >18 years
- Covered by social security,
- Informed and having signed the informed consent form.
- with PXE defined according to current clinical criteria for PXE (REACT-PXE and PNDS consensus) and with an ABCC6 mutation.
Key exclusion criteria (5 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 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 | Biological | NON PXE Patient, PXE Patient |
| SCANNERnon-injected coronary and lower limb scanner | Radiation | NON PXE Patient |
Primary outcome
potential role of the ADO
Time frame: at inclusion
mesure of concentration
2 secondary outcomes
correlation between ADO, PPi and ectoenzymatic activities
Time frame: at inclusion
correlation between ADO, PPi and calcification score
Time frame: at inclusion
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Apr 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing supplementary tubes and SCANNER in people with Pseudoxanthoma Elasticum, run by Centre Hospitalier Universitaire de Nice at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 24 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Georges LEFTHERIOTIS, PUPH (04 92 03 85 48, leftheriotis.g@chu-nice.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
potential role of the ADO (time frame: at inclusion). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Apr 2026.