Determinants of Ectopic Calcification in Pseudoxanthoma Elasticum and Healthy controls: Evaluation of their Relations

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 126

Inclusion Criteria

For PXE patients:
1. Age 18 and older.
2. Clinical diagnosis of PXE. For the present study the revised criteria for
diagnosis of PXE from Plomp et al. (2010) will be used. At least two (or more)
criteria not belonging to the same (skin, eye, genetic) category should be
present for inclusion.
a. Skin
i. Yellowish papules and/or plaques on the lateral side of the neck and/or
flexural areas of the body
or
ii. Increase of morphologically altered elastin with fragmentation, clumping
and calcification of elastic fibers in a skin biopsy taken.
b. Eye
i. Peau d'orange of the retina; or
ii. One or more angioid streaks (AS), each at least as long as one disk
diameter. When in doubt, fluorescein or indocyanine green angiography of the
fundus is needed for confirmation.
c. Genetics
i. A pathogenic mutation of both alleles of the ABCC6gene
ii. A first-degree relative (parent, sibling or child) who meets independently
the diagnostic criteria for definitive PXE, For healthy controls:
1. Age 18 and older

Exclusion Criteria

For PXE patients:
1. Subjects who are unable or unwilling to sign an informed consent., For
healthy controls:
1. Subjects who are unable or unwilling to sign an informed consent.
2. Two or more criteria for diagnosis of PXE from Plomp et al. (2010),
Additional exclusion criteria for participation in the brain MRI study:
3. Severe renal impairment (estimated creatinine clearance/eGFR of <30
ml/min/1.73m2 calculated using CKD-EPI equation).
4. A pacemaker
5. A metallic foreign body in the eye
6. Severe claustrofobia

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Differences in serum levels of calcification promoting and inhibiting factors<br /><br>between PXE patients and healthy controls.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>1) differences in MRI brain lesions, vascular brain flow pulsatility and brain<br /><br>tissue perfusion between PXE patients and healthy controls.<br /><br>2) to link these differences to differences in cognitive function.<br /><br>3) differences in retinal and choroidal structures and functional outcome in<br /><br>PXE patients and healthy controls<br /><br>4) differences in visus related QoL in PXE patients and healthy controls</p><br>