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

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON47548

Enrollment

126

Registered

2016-11-09

Start date

2016-12-14

Completion date

Unknown

Last updated

2024-08-19

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Pseudoxanthoma Elasticum

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

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

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

Design outcomes

Primary

Measure	Time frame
Differences in serum levels of calcification promoting and inhibiting factors between PXE patients and healthy controls.	—

Secondary

Measure	Time frame
1) differences in MRI brain lesions, vascular brain flow pulsatility and brain tissue perfusion between PXE patients and healthy controls. 2) to link these differences to differences in cognitive function. 3) differences in retinal and choroidal structures and functional outcome in PXE patients and healthy controls 4) differences in visus related QoL in PXE patients and healthy controls	—

Countries

Netherlands

Outcome results