Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
Daiichi Sankyo
With
PXE International
Thomas Jefferson University
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.
Age
18–75
Sex
ALL
Healthy volunteers
Accepted
You may be eligible if
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
You may not be if
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
Clareo Health | Pseudoxanthoma Elasticum (PXE) Natural History Biomarkers in PXE Individuals and Their Biological Non-PXE Siblings
