Pseudoxanthoma Elasticum
Conditions
Keywords
Pseudoxanthoma Elasticum, Bone turnover biomarkers, Tissue mineralization biomarkers
Brief summary
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.
Detailed description
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.
Interventions
OTHERNon Interventional
This is an observational study.
Sponsors
PXE International
Thomas Jefferson University
Daiichi Sankyo
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 75 Years
Healthy volunteers
Yes
Inclusion criteria
* Male or female participants aged 18 to 75 years * Participants (approximately 1 carrier and 1 normal to match proband) * Confirmed PXE participants: index PXE/proband with established PXE and ABCC6 mutations identified * PXE carrier participants: biological sibling of the PXE index case and confirmed as PXE carrier * Non-PXE normal participants: biological sibling of PXE index case and confirmed as non-PXE normal
Exclusion criteria
* Unconfirmed ABCC6 mutation status * Use of bisphosphonate in the preceding 12 months and during the study * Use of Vitamin B6 and/or Vitamin D supplement in the preceding 1 month and during the study (if the total Vitamin B6 supplementation is \>5 mg/day) * Recent initiation or dose change of Vitamin D and/or multivitamin supplement in the preceding 1 month and during the study * Bone fracture within 3 months prior to Screening or active bone disease (excluding osteopenia or osteoporosis) * History of hyperparathyroidism * History of moderate to severe renal impairment * History of hypophosphatasia * Known history of uncorrected abnormality in calcium (Ca), phosphate, alkaline phosphatase (ALP) or parathyroid hormone * Other significant condition (medical, psychiatric, social, or medication) that, in the judgment of the Investigator, would prevent full participation or would be inappropriate for the study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Mean Serum Enzyme Activity Levels of Bone-specific Alkaline Phosphatase (BSAP) | Study visit (0 hours) | BSAP will be measured using the standard clinical chemistry assays, by study group and by timepoint where applicable. |
| Mean Plasma Levels of Inorganic Pyrophosphate (PPi) | Study visit (0 up to 2 hours) | PPi will be assessed by study group and by timepoint where applicable. |
| Mean Plasma Levels of Pyridoxal 5´-Phosphate (PLP) | Study visit (0 up to 2 hours) | PLP will be assessed by study group and by timepoint where applicable. |
| Mean Serum Enzyme Activity Levels of Alkaline Phosphatase (ALP) | Study visit (0 up to 2 hours) | ALP will be measured using the standard clinical chemistry assays, by study group and by timepoint where applicable. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Percent Change from Baseline in Plasma Levels of PPi and PLP, by Sex | Study visit (0 to 2 hours) | Blood samples will be assessed by sex group. |
| Percent Change from Baseline in Serum Enzyme Activity of ALP, by Sex | Study visit (0 to 2 hours) | Blood samples will be assessed by sex group. |
| Percent Change from Baseline and Variability in Plasma Levels of PPi and PLP | Study visit (0 to 2 hours) | Variability of PPi and PLP will be assessed. |
| Percent Change from Baseline and Variability in Serum Enzyme Activity of ALP | Study visit (0 to 2 hours) | Variability of ALP will be assessed. |
Countries
United States
Outcome results
None listed