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

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Angers University Hospital
  Angers, France Recruiting

Study contacts

• Principal investigator: Laurie MOUROZEAU, Doctor — University Hospital, Angers
• Study coordinator: Laurie MOUROZEAU, Doctor
• Email: Laurie.Mourozeau@chu-angers.fr
• Phone: +33 (0)2 41 35 32 74

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.