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

Pseudoxanthoma Elasticum Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05025722
• Other study ID #: DS1211-A-U104
• Status: Completed
• Start date: August 30, 2021
• Est. completion date: August 11, 2022

Study information

• Verified date: September 2022
• Source: Daiichi Sankyo, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 48
• Est. completion date: August 11, 2022
• Est. primary completion date: August 11, 2022
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 75 Years

Eligibility

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

Related Conditions & MeSH terms

• Pseudoxanthoma Elasticum

Intervention

Other:
• Non Interventional
This is an observational study.

Locations

Country	Name	City	State
United States	Thomas Jefferson University	Philadelphia	Pennsylvania

Sponsors (3)

Lead Sponsor	Collaborator
Daiichi Sankyo, Inc.	PXE International, Thomas Jefferson University

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Secondary	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)
Secondary	Percent Change from Baseline in Serum Enzyme Activity of ALP, by Sex	Blood samples will be assessed by sex group.	Study visit (0 to 2 hours)
Secondary	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)
Secondary	Percent Change from Baseline and Variability in Serum Enzyme Activity of ALP	Variability of ALP will be assessed.	Study visit (0 to 2 hours)