Pseudoxanthoma Elasticum (PXE) Natural History Biomarkers in PXE Individuals and Their Biological… (NCT05025722) | Clinical Trial Compass
CompletedNot Applicable
Pseudoxanthoma Elasticum (PXE) Natural History Biomarkers in PXE Individuals and Their Biological Non-PXE Siblings
United States48 participantsStarted 2021-08-30
Plain-language 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.
Who can participate
Age range
18 Years – 75 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Mean Plasma Levels of Inorganic Pyrophosphate (PPi)
Timeframe: Study visit (0 up to 2 hours)
2
Mean Plasma Levels of Pyridoxal 5´-Phosphate (PLP)
Timeframe: Study visit (0 up to 2 hours)
3
Mean Serum Enzyme Activity Levels of Alkaline Phosphatase (ALP)
Timeframe: Study visit (0 up to 2 hours)
4
Mean Serum Enzyme Activity Levels of Bone-specific Alkaline Phosphatase (BSAP)