Trial document

This study has been imported from without additional data checks.
drksid header


Trial Description

start of 1:1-Block title


Characterization of Patients With Pseudoxanthoma Elasticum

end of 1:1-Block title
start of 1:1-Block acronym

Trial Acronym


end of 1:1-Block acronym
start of 1:1-Block url

URL of the Trial


end of 1:1-Block url
start of 1:1-Block public summary

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.

end of 1:1-Block public summary
start of 1:1-Block scientific synopsis

Brief Summary in Scientific Language


end of 1:1-Block scientific synopsis
start of 1:1-Block organizational data

Organizational Data

  •   DRKS00007215
  •   2015/05/08
  •   2014/04/01
  •   yes
  •   [---]*
  •   [---]*
end of 1:1-Block organizational data
start of 1:n-Block secondary IDs

Secondary IDs

  •   NCT02108392  (
  •   pending  (University Hospital, Bonn)
end of 1:n-Block secondary IDs
start of 1:N-Block indications

Health Condition or Problem studied

  •   Pseudoxanthoma Elasticum
  •   Q82.8 -  Other specified congenital malformations of skin
end of 1:N-Block indications
start of 1:N-Block interventions

Interventions/Observational Groups

  • [---]*
end of 1:N-Block interventions
start of 1:1-Block design


  •   Non-interventional
  •   Observational study
  •   [---]*
  •   [---]*
  •   [---]*
  •   [---]*
  •   [---]*
  •   [---]*
  •   N/A
  •   [---]*
end of 1:1-Block design
start of 1:1-Block primary endpoint

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.

end of 1:1-Block primary endpoint
start of 1:1-Block secondary endpoint

Secondary Outcome

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

end of 1:1-Block secondary endpoint
start of 1:n-Block recruitment countries

Countries of Recruitment

  •   Germany
end of 1:n-Block recruitment countries
start of 1:n-Block recruitment locations

Locations of Recruitment

end of 1:n-Block recruitment locations
start of 1:1-Block recruitment


  •   [---]*
  •   2014/01/31
  •   100
  •   [---]*
  •   [---]*
end of 1:1-Block recruitment
start of 1:1-Block inclusion criteria

Inclusion Criteria

  •   Both, male and female
  •   no minimum age
  •   no maximum age
end of 1:1-Block inclusion criteria
start of 1:1-Block inclusion criteria add

Additional Inclusion Criteria

Inclusion Criteria:

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

end of 1:1-Block inclusion criteria add
start of 1:1-Block exclusion criteria

Exclusion Criteria


end of 1:1-Block exclusion criteria
start of 1:n-Block addresses


  • start of 1:1-Block address primary-sponsor
    • University Hospital, Bonn
    end of 1:1-Block address primary-sponsor
    start of 1:1-Block address contact primary-sponsor
    •   [---]*
    •   [---]*
    •   [---]*
    •   [---]*
    end of 1:1-Block address contact primary-sponsor
  • start of 1:1-Block address scientific-contact
    • Department of Ophthalmology, University of Bonn
    • Peter Charbel Issa, MD 
    end of 1:1-Block address scientific-contact
    start of 1:1-Block address contact scientific-contact
    •   [---]*
    •   [---]*
    •   [---]*
    •   [---]*
    end of 1:1-Block address contact scientific-contact
  • start of 1:1-Block address public-contact
    • Martin Gliem, MD 
    end of 1:1-Block address public-contact
    start of 1:1-Block address contact public-contact
    end of 1:1-Block address contact public-contact
end of 1:n-Block addresses
start of 1:n-Block material support

Sources of Monetary or Material Support

  • start of 1:1-Block address materialSupport
    • Bitte wenden Sie sich an den Sponsor / Please refer to primary sponsor
    end of 1:1-Block address materialSupport
    start of 1:1-Block address contact materialSupport
    •   [---]*
    •   [---]*
    •   [---]*
    •   [---]*
    end of 1:1-Block address contact materialSupport
end of 1:n-Block material support
start of 1:1-Block state


  •   Recruiting ongoing
  •   [---]*
end of 1:1-Block state
start of 1:n-Block publications

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
end of 1:n-Block publications
The parameters in and DRKS are not identical. Therefore the data import from 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.