Ignite Creation Date:
2024-05-06 @ 2:42 AM
Last Modification Date:
2024-10-26 @ 11:22 AM
Study NCT ID:
NCT02108392
Status:
UNKNOWN
Last Update Posted:
2018-06-20
First Post:
2014-04-01
Brief Title:
Characterization of Pseudoxanthoma Elasticum
Sponsor:
University Hospital Bonn
Organization:
University Hospital Bonn
Study Overview
Official Title:
Characterization of Patients With Pseudoxanthoma Elasticum
Status:
UNKNOWN
Status Verified Date:
2018-06
Last Known Status:
ACTIVE_NOT_RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Pseudoxanthoma elasticum PXE is a rare multisystem disorder of autosomal recessive inheritance OMIM 264800 and an estimated prevalence between 125000 and 1100000 PXE is characterized by calcification and fragmentation of connective tissue rich in elastic fibers Due to its high content of elastic fibers Bruch Membrane in eyes of patients affected by PXE becomes thickened and calcified The ocular phenotype is characterized by angioid streaks and peau dorange but also choroidal neovascularizations and chorioretinal atrophy thereby in part mimicking the phenotype of age-related macular degeneration The disease is due to mutations of the ABCC6-gene coding for a transmembrane protein which is mainly expressed in the liver and kidney It is hypothesized that ABCC6 is involved in the excretion of a yet unknown factor from the liver which inhibits systemic calcification In animal models several candidates for this factor have been identified but direct evidence for such a factor in patients with PXE is still missing The primary purpose of this study is to further investigate the ocular phenotype of patients with PXE using multimodal imaging and functional testing to delineate the impact of Bruch membrane pathology on the eye Furthermore possible systemic anti-calcification factors as well as associations with the vascular alterations are investigated to gain more insights into the pathogenesis of PXE
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None