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

CHOPXE - Analysis of Choriocapillaris Flow Deficits in Patients With Pseudoxanthoma Elasticum

Not applicable Interventional University Hospital, Angers · NCT07006649

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.

Quick facts

PhaseNot applicable
Study typeInterventional
Enrollment60 (estimated)
Ages18 Years and up
SexAll
SponsorUniversity Hospital, Angers Government
Locations1 site (Angers)
Trial IDNCT07006649 on ClinicalTrials.gov

What this trial studies

CHOPXE is a single-center, case-control, cross-sectional study that compares choriocapillaris flow deficits measured by OCT angiography between adults with pseudoxanthoma elasticum (PXE) and age- and sex-matched healthy controls. Participants undergo standardized ophthalmic imaging to quantify flow deficits in the choriocapillaris layer. Cases are recruited from patients with PXE in pre-atrophic stages, and controls must have no ophthalmic pathology, severe myopia, or diabetes. The study aims to determine whether OCT-A measurements could serve as an objective marker of early PXE-related retinal and choroidal changes.

Who should consider this trial

Good fit: Ideal candidates are adults with genetically confirmed or clinically diagnosed PXE in pre-atrophic stages, and age- and sex-matched healthy adults without eye disease who can undergo OCT-A imaging and provide informed consent.

Not a fit: Patients with existing ophthalmic diseases (maculopathy, glaucoma, optic neuropathy, retinopathy), severe myopia, diabetes, pregnancy, or inability to complete imaging are unlikely to benefit from this protocol.

Why it matters

Potential benefit: If successful, OCT-A choriocapillaris measurements could become an objective early marker to track PXE progression and help guide monitoring and treatment decisions.

How similar studies have performed: OCT-A has revealed choriocapillaris flow deficits in other retinal degenerations, but its use specifically as an objective marker in PXE remains limited and exploratory.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Participant not afflicted by the disease under investigation and without ophthalmological pathology
* Person matched in age (+/- 5 years) and gender to a case (patient with PXE in pre-atrophic stages included in the PXE cohort)
* Signature of informed consent for participation in the protocol
* Adult at time of inclusion Criteria for non-inclusion of research subjects
* Known ophthalmological diseases (maculopathy, glaucoma, optic neuropathy, retinopathy whatever the aetiology)
* Known severe myopia, defined by a sphere \> - 6 dioptres
* Diabetic subject
* Unable to carry out the ophthalmological examinations of the study
* Pregnant, breast-feeding or parturient woman
* Person undergoing psychiatric care under constraint
* Person subject to a legal protection measure
* Person not affiliated or not benefiting from a social security scheme

Exclusion Criteria:

* Ophthalmic pathology (maculopathy, glaucoma, optic neuropathy, retinopathy, whatever the etiology) discovered during the ophthalmic workup
* AngioOCT examination inexploitable (artifact and/or image quality less than 50/100 even after pupillary dilation)
* Severe myopia (sphere \> - 6 dioptres) discovered during the ophthalmic workup.

Case inclusion critera :

* Patient diagnosed with pseudoxanthoma elasticum, defined according to Plomp's criteria: two out of three features related to PXE: (1) two pathogenic mutations in the ABCC6 gene, and/or (2) disease-specific dermatological changes and/or (3) disease-specific ocular changes;
* Included in the PXE cohort ;
* With pre-atrophic damage, i.e. at least one eye without choroidal neovessels on OCT-A, without previous intravitreal injection of anti-VEGF, and without major retinal atrophy (less than 2 papillary diameters);
* who have had an angiographic OCT (performed during follow-up consultations) with usable results (no artifacts and image quality of 50/100 or better) ;
* patient's non-objection to participation in a study

Case criteria for non-inclusion :

* Other known ophthalmological pathology (maculopathy, glaucoma, optic neuropathy, retinopathy of any etiology)
* Severe myopia, defined by a sphere \> - 6 dioptres
* Diabetic subject

Where this trial is running

Angers

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Pseudoxanthoma ElasticumTomography, Optical CoherenceRetinal Diseasecomparative studiesobservational studyadultcross-sectional studieshealthy volunteers
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.