Health TrialsbyHealthPanel

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

ConditionsPseudoxanthoma ElasticumTomography, Optical CoherenceRetinal Disease
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18+
SponsorUniversity Hospital, Angers

About this trial

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.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

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

Disqualifiers

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;

Trial design

Design model

Single group

Treatments tested in this trial

  • Opthtalmologic diagnosis tests

    Diagnostic test

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

Treatment groups

60 Participants
are divided into 1 treatment group
Group A: Healthy volunteers arm with opthtalmologic evaluationExperimental treatment 1 intervention

Trial outcomes

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

Time frame
Inclusion

Secondary outcomes

1

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 ;

Time frame
During inclusion visit
2

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 ;

Time frame
during inclusion visit
3

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 ;

Time frame
During inclusion visit
4

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

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 arterial stenosis of the lower limbs on Doppler ultrasound in PXE patients ;

Time frame
During inclusion visit

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

University Hospital, Angers

Lead sponsor

Source ClinicalTrials.gov
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