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

NCT07006649 | Recruiting

• 2 other identifiers: 49RC24_02542025-A00674-45
• Study Type: interventional
• Target: 60
• Locations: 1 country
• Sites: 1

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, incurable hereditary disease caused by genetic mutations. The condition is characterised by excessive tissue mineralisation, which can result in a range of dermatological, vascular, and ophthalmological complications. Among these complications is the potential for visual impairment. The management of this condition is focused on the treatment of its complications. Degeneration of the retina and the choroid (the layer responsible for ensuring its vascularisation) occurs in the eye, resulting in premature degeneration. We would like to study the premature alteration of these structures, which could subsequently be used as an objective marker of the evolution of pseudoxanthoma elasticum.

Conditions

Tomography, Optical Coherence; Retinal Disease; Pseudoxanthoma Elasticum

Keywords

comparative studies; observational study; adult; cross-sectional studies; healthy volunteers

Outcome Measures

Primary Outcomes (1)

• Mean percentage of choriocapillary flow deficits by OCT-A on 6x6 mm scans

  Comparison of macular choriocapillaris flow deficits per OCT angiography (OCT-A) between healthy controls and patients with pseudoxanthoma elasticum in pre-atrophic stage

  Inclusion

Secondary Outcomes (5)

• comparison between healthy controls and patients with pseudoxanthoma elasticum in pre-atrophic stage : - Average percentage of choriocapillaris flow deficits per OCT-A per ETDRS grid sub-sector ;

  During inclusion visit

• comparison between healthy controls and patients with pseudoxanthoma elasticum in pre-atrophic stage : - Average percentage of choriocapillaris flow deficits per OCT-A per age, over 6x6mm ;

  during inclusion visit

• comparison between healthy controls and patients with pseudoxanthoma elasticum in pre-atrophic stage : - Average percentage of choriocapillaris flow deficits per OCT-A according to the presence of inflammatory skin lesion in PXE patients ;

  During inclusion visit

• Average percentage of choriocapillaris flow deficits per OCT-A according to the presence of arterial stenosis of the lower limbs

  During inclusion visit

• Average percentage of choriocapillaris flow deficits per OCT-A according to the presence of carotid artery dysplasia

  During inclusion visit

Study Arms (1)

Healthy volunteers arm with opthtalmologic evaluation

EXPERIMENTAL

Diagnostic Test: Opthtalmologic diagnosis tests

Interventions

Opthtalmologic diagnosis tests DIAGNOSTIC_TEST

Volunteer will be tested with : measurement of visual acuity, slit-lamp examination, fundus examination, optical coherence tomography

Healthy volunteers arm with opthtalmologic evaluation

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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
• 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

You may not qualify if:

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

Sponsors & Collaborators

• University Hospital, Angers: lead

Study Sites (1)

Angers University Hospital

Angers, 49000, France

RECRUITING

MeSH Terms

Conditions

Pseudoxanthoma Elasticum; Retinal Diseases

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases; Eye Diseases

Study Officials

• Laurie MOUROZEAU, Doctor

  University Hospital, Angers

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Laurie MOUROZEAU, Doctor

CONTACT

+33 (0)2 41 35 32 74; Laurie.Mourozeau@chu-angers.fr

Matthieu LE LAY, Master

CONTACT

+33 (0)2 41 35 58 91; DRCI-Promotion-Interne@chu-angers.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 27, 2025
• First Posted: June 5, 2025
• Study Start: November 28, 2025
• Primary Completion (Estimated): November 1, 2026
• Study Completion (Estimated): November 1, 2026
• Last Updated: December 8, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will share

Locations

FR (1)