An Evaluation of Pseudoxanthoma Elasticum (PXE) Natural History Biomarkers in PXE Individuals and Their Biological Non-PXE Siblings
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 48
- 试验地点
- 1
- 主要终点
- Mean Plasma Levels of Pyridoxal 5´-Phosphate (PLP)
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 75 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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
排除标准
- •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
结局指标
主要结局
Mean Plasma Levels of Pyridoxal 5´-Phosphate (PLP)
时间窗: 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 Bone-specific Alkaline Phosphatase (BSAP)
时间窗: Study visit (0 hours)
BSAP will be measured using the standard clinical chemistry assays, by study group and by timepoint where applicable.
Mean Serum Enzyme Activity Levels of Alkaline Phosphatase (ALP)
时间窗: 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.
Mean Plasma Levels of Inorganic Pyrophosphate (PPi)
时间窗: Study visit (0 up to 2 hours)
PPi will be assessed by study group and by timepoint where applicable.
次要结局
- Percent Change from Baseline in Serum Enzyme Activity of ALP, by Sex(Study visit (0 to 2 hours))
- Percent Change from Baseline and Variability in Serum Enzyme Activity of ALP(Study visit (0 to 2 hours))
- Percent Change from Baseline in Plasma Levels of PPi and PLP, by Sex(Study visit (0 to 2 hours))
- Percent Change from Baseline and Variability in Plasma Levels of PPi and PLP(Study visit (0 to 2 hours))