Status:

RECRUITING

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

Lead Sponsor:

University Hospital, Angers

Conditions:

Pseudoxanthoma Elasticum

Tomography, Optical Coherence

Eligibility:

All Genders

18+ years

Phase:

NA

Brief Summary

This observational study sets out to compare choriocapillaris flow deficits between healthy control subjects and patients with pseudoxanthoma elasticum. Pseudoxanthoma elasticum (PXE) is a rare, incur...

Detailed Description

CHOPXE is a single-center, cas-control, cross-sectional study with the objective of comparing choriocapillaris flow deficits by OCT angiography (OCT-A) between healthy control subjects and patients wi...

Eligibility 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

Key Trial Info

Start Date :

November 28 2025

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

November 1 2026

Estimated Enrollment :

60 Patients enrolled

Trial Details

Trial ID

NCT07006649

Start Date

November 28 2025

End Date

November 1 2026

Last Update

December 8 2025

Active Locations (1)

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1

Angers University Hospital

Angers, France, 49000