This PXE biomarker study aims to characterize the levels of inorganic pyrophosphate (PPi), pyridoxal 5´-phosphate (PLP), and other biomarkers relevant to PXE and ectopic calcification in both PXE patients and their biological siblings who are PXE carriers or normal non-PXE individuals.
This non-interventional PXE study is designed to assess differences in circulation levels of selective biomarkers related to PXE and tissue-nonspecific alkaline phosphatase (TNAP) inhibition, between PXE patients, PXE carriers, and non-PXE normal individuals.
Study Type
OBSERVATIONAL
Enrollment
48
This is an observational study.
Thomas Jefferson University
Philadelphia, Pennsylvania, United States
Mean Plasma Levels of Inorganic Pyrophosphate (PPi)
PPi will be assessed by study group and by timepoint where applicable.
Time frame: Study visit (0 up to 2 hours)
Mean Plasma Levels of Pyridoxal 5´-Phosphate (PLP)
PLP will be assessed by study group and by timepoint where applicable.
Time frame: Study visit (0 up to 2 hours)
Mean Serum Enzyme Activity Levels of Alkaline Phosphatase (ALP)
ALP will be measured using the standard clinical chemistry assays, by study group and by timepoint where applicable.
Time frame: Study visit (0 up to 2 hours)
Mean Serum Enzyme Activity Levels of Bone-specific Alkaline Phosphatase (BSAP)
BSAP will be measured using the standard clinical chemistry assays, by study group and by timepoint where applicable.
Time frame: Study visit (0 hours)
Percent Change from Baseline in Plasma Levels of PPi and PLP, by Sex
Blood samples will be assessed by sex group.
Time frame: Study visit (0 to 2 hours)
Percent Change from Baseline in Serum Enzyme Activity of ALP, by Sex
Blood samples will be assessed by sex group.
Time frame: Study visit (0 to 2 hours)
Percent Change from Baseline and Variability in Plasma Levels of PPi and PLP
Variability of PPi and PLP will be assessed.
Time frame: Study visit (0 to 2 hours)
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Percent Change from Baseline and Variability in Serum Enzyme Activity of ALP
Variability of ALP will be assessed.
Time frame: Study visit (0 to 2 hours)