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| Name | Class |
|---|---|
| PXE International | OTHER |
| Thomas Jefferson University | OTHER |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Confirmed PXE participants | Participants who have index PXE/proband with established PXE and ABCC6 mutations identified. |
| |
| PXE carrier participants | Participants who are biological siblings of the PXE index case and confirmed as PXE carrier. |
| |
| Non-PXE normal participants | Participants who are biological siblings of PXE index case and confirmed as non-PXE normal. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Non Interventional | Other | This is an observational study. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Mean Plasma Levels of Inorganic Pyrophosphate (PPi) | PPi will be assessed by study group and by timepoint where applicable. | 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. | 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. | 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. | Study visit (0 hours) |
| Measure | Description | Time Frame |
|---|---|---|
| Percent Change from Baseline in Plasma Levels of PPi and PLP, by Sex | Blood samples will be assessed by sex group. | Study visit (0 to 2 hours) |
| Percent Change from Baseline in Serum Enzyme Activity of ALP, by Sex |
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Inclusion Criteria:
Male or female participants aged 18 to 75 years
Participants (approximately 1 carrier and 1 normal to match proband)
Exclusion Criteria:
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PXE probands with identified ABCC6 mutations and non-PXE biological siblings will be invited for study participation.
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| Name | Affiliation | Role |
|---|---|---|
| Global Clinical Leader | Daiichi Sankyo | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Thomas Jefferson University | Philadelphia | Pennsylvania | 19107 | United States |
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| ID | Term |
|---|---|
| D011561 | Pseudoxanthoma Elasticum |
| ID | Term |
|---|---|
| D020141 | Hemostatic Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D006474 | Hemorrhagic Disorders |
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Blood samples will be assessed by sex group.
| 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. | Study visit (0 to 2 hours) |
| Percent Change from Baseline and Variability in Serum Enzyme Activity of ALP | Variability of ALP will be assessed. | Study visit (0 to 2 hours) |
| D006402 |
| Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D012868 | Skin Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012873 | Skin Diseases, Genetic |
| D030342 | Genetic Diseases, Inborn |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D012871 | Skin Diseases |