Pseudoxanthoma Elasticum (PXE) Natural History Biomarkers in PXE Individuals and Their Biological Non-PXE Siblings

Daiichi Sankyo

Status: Completed

Conditions: Pseudoxanthoma Elasticum

Treatments: Other: Non Interventional

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT05025722

DS1211-A-U104

Details and patient eligibility

About

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.

Full 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.

Enrollment: 48 patients

Sex: All

Ages: 18 to 75 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

48 participants in 3 patient groups

Confirmed PXE participants

Description:

Participants who have index PXE/proband with established PXE and ABCC6 mutations identified.

Treatment:

Other: Non Interventional

PXE carrier participants

Description:

Participants who are biological siblings of the PXE index case and confirmed as PXE carrier.

Treatment:

Other: Non Interventional

Non-PXE normal participants

Description:

Participants who are biological siblings of PXE index case and confirmed as non-PXE normal.

Treatment:

Other: Non Interventional