Trial document





This study has been imported from ClinicalTrials.gov without additional data checks.
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  DRKS00007215

Trial Description

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Title

Characterization of Patients With Pseudoxanthoma Elasticum

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Trial Acronym

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URL of the Trial

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Brief Summary in Lay Language

Pseudoxanthoma elasticum (PXE) is a rare multisystem disorder of autosomal recessive
inheritance (OMIM# 264800) and an estimated prevalence between 1:25.000 and 1:100.000. 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 d'orange 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.

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Brief Summary in Scientific Language

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Organizational Data

  •   DRKS00007215
  •   2015/05/08
  •   2014/04/01
  •   yes
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Secondary IDs

  •   NCT02108392  (ClinicalTrials.gov)
  •   pending  (University Hospital, Bonn)
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Health Condition or Problem studied

  •   Pseudoxanthoma Elasticum
  •   Q82.8 -  Other specified congenital malformations of skin
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Interventions/Observational Groups

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Characteristics

  •   Non-interventional
  •   Observational study
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  •   N/A
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Primary Outcome

- Ocular phenotype; time frame: patients will be followed longitudinally with an expected 1-year average interval between visits; Patients are investigated using a multimodal imaging approach and visual function testing.

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Secondary Outcome

- Biomarkers in PXE; time frame: 1 day (first visit); Potential systemic biomarkers are investigated by collecting blood samples of PXE patients

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Countries of Recruitment

  •   Germany
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Locations of Recruitment

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Recruitment

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  •   2014/01/31
  •   100
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Inclusion Criteria

  •   Both, male and female
  •   no minimum age
  •   no maximum age
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Additional Inclusion Criteria

Inclusion Criteria:

- Diagnosis of Pseudoxanthoma elastcium based on histopathologic and/or genetic testing

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Exclusion Criteria

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Addresses

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    • University Hospital, Bonn
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    • Department of Ophthalmology, University of Bonn
    • Peter Charbel Issa, MD 
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    • Martin Gliem, MD 
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Sources of Monetary or Material Support

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    • Bitte wenden Sie sich an den Sponsor / Please refer to primary sponsor
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Status

  •   Recruiting ongoing
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Trial Publications, Results and other Documents

  •   Webpage of the University Eye Hospital of Bonn
  •   Gliem M, Zaeytijd JD, Finger RP, Holz FG, Leroy BP, Charbel Issa P. An update on the ocular phenotype in patients with pseudoxanthoma elasticum. Front Genet. 2013 Apr 4;4:14. doi: 10.3389/fgene.2013.00014. eCollection 2013.; 23577018
  •   Finger RP, Fenwick E, Marella M, Charbel Issa P, Scholl HP, Holz FG, Lamoureux EL. The relative impact of vision impairment and cardiovascular disease on quality of life: the example of pseudoxanthoma elasticum. Health Qual Life Outcomes. 2011 Dec 12;9:113. doi: 10.1186/1477-7525-9-113.; 22152229
  •   Finger RP, Charbel Issa P, Hendig D, Scholl HP, Holz FG. Monthly ranibizumab for choroidal neovascularizations secondary to angioid streaks in pseudoxanthoma elasticum: a one-year prospective study. Am J Ophthalmol. 2011 Oct;152(4):695-703. Epub 2011 Jun 25.; 21704964
  •   Finger RP, Charbel Issa P, Schmitz-Valckenberg S, Holz FG, Scholl HN. Long-term effectiveness of intravitreal bevacizumab for choroidal neovascularization secondary to angioid streaks in pseudoxanthoma elasticum. Retina. 2011 Jul-Aug;31(7):1268-78. doi: 10.1097/IAE.0b013e318207d1dc.; 21386758
  •   Charbel Issa P, Finger RP, Götting C, Hendig D, Holz FG, Scholl HP. Centrifugal fundus abnormalities in pseudoxanthoma elasticum. Ophthalmology. 2010 Jul;117(7):1406-14. doi: 10.1016/j.ophtha.2009.11.008. Epub 2010 Mar 1.; 20189652
  •   Finger RP, Charbel Issa P, Ladewig M, Götting C, Holz FG, Scholl HP. Fundus autofluorescence in Pseudoxanthoma elasticum. Retina. 2009 Nov-Dec;29(10):1496-505. doi: 10.1097/IAE.0b013e3181aade47.; 19823106
  •   Charbel Issa P, Finger RP, Holz FG, Scholl HP. Multimodal imaging including spectral domain OCT and confocal near infrared reflectance for characterization of outer retinal pathology in pseudoxanthoma elasticum. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5913-8. doi: 10.1167/iovs.09-3541. Epub 2009 Jun 24. PubMed PMID: 19553619.; 19553619
  •   Gliem M, Finger RP, Fimmers R, Brinkmann CK, Holz FG, Charbel Issa P. Treatment of choroidal neovascularization due to angioid streaks: a comprehensive review. Retina. 2013 Jul-Aug;33(7):1300-14. doi: 10.1097/IAE.0b013e3182914d2b. Review.; 23719398
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The parameters in ClinicalTrials.gov and DRKS are not identical. Therefore the data import from ClinicalTrials.gov required adjustments. For full details please see the DRKS FAQs .
  •   1
  •   2014/11/05
* This entry means the parameter is not applicable or has not been set.