Clinical Trial: What's Happen Under the Calcification Process in Pseudoxanthoma Elasticum

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

Official Title: Glucidic Metabolism, Ossification and Arterial Calcification During PseudoXanthoma Elasticum (PXE)

Brief Summary: The investigators hypothesize is that in PXE patients, low grade chronic inflammation could preceed the molecular and the clinical calcification process.

Detailed Summary:

Pseudoxanthoma elasticum (PXE; OMIM 264800), is an autosomal recessive metabolic disorder characterized by the fragmentation and progressive calcification of elastic fibers(elastorrhexis) in connective tissue in the skin, Bruch's membrane of the retina and the vascular system. PXE is caused by mutations in the ABCC6 (ATP-binding cassette subfamily C member 6) gene, located on the short arm of chromosome 16, encoding a transmembrane ATP binding anion transporter normally expressed in the liver and the kidney. The pathophysiology of PXE, particularly the mechanism of ectopic mineralization, remains largely unknown. PXE is currently an intractable disease, associated with considerable morbidity and occasional mortality due to cardiovascular complications. The major symptoms of the disease are characterized by unaesthetic skin folds, central blindness and cardiovascular complication with an early and severe peripheral arterial disease (PAD) and complication at younger age than the normal population. Unfortunately, histological studies are limited by the availability of arterial tissue from patients but it has been showed calcium deposition in the media layer of the large (i.e. aorta, carotids and femoral) and medium sized vessels (i.e. radial and ankle arteries) (ref). However, the underlying pathophysiology for arterial calcification in PXE remains incompletely defined, and there are currently no effective medical treatments capable of altering its course.

No longitudinal study has been performed to explain the calcification process in PXE. As PXE is a systemic metabolic disease, low grade inflammation could be the trigger of a deregulated inflammation resolution process resulted in calcification. Thus, alternative techniques are therefore required to investigate the pathogenesis and progression of this condition.

Positron em
Sponsor: University Hospital, Angers

Current Primary Outcome:

• Vascular Inflammation [ Time Frame: 90min post injection : 1 time ]
  Measurement 18F-FDG TBRs of patients with PXE; and the comparison of 18F-NaF femoral arteries' TBRs with popliteal artery's TBRs of patients with PXE (at 30 min and 90min post injection).
• Molecular Calcification [ Time Frame: 90min post injection : 1 time ]
  Measurement 18F-NaF femoral arteries' TBRs with popliteal artery's TBRs of patients with PXE

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: University Hospital, Angers

Dates:
Date Received: June 13, 2016
Date Started: November 2016
Date Completion: June 2017
Last Updated: May 16, 2017
Last Verified: February 2017