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

September 2, 2022 updated by: Daiichi Sankyo, Inc.

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

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed 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.

Study Type

Observational

Enrollment (Actual)

48

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19107
        • Thomas Jefferson University

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 75 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

PXE probands with identified ABCC6 mutations and non-PXE biological siblings will be invited for study participation.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Confirmed PXE participants
Participants who have index PXE/proband with established PXE and ABCC6 mutations identified.
Other: Non Interventional
This is an observational study.
PXE carrier participants
Participants who are biological siblings of the PXE index case and confirmed as PXE carrier.
Other: Non Interventional
This is an observational study.
Non-PXE normal participants
Participants who are biological siblings of PXE index case and confirmed as non-PXE normal.
Other: Non Interventional
This is an observational study.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Mean Plasma Levels of Inorganic Pyrophosphate (PPi)
Time Frame: Study visit (0 up to 2 hours)
PPi will be assessed by study group and by timepoint where applicable.
Study visit (0 up to 2 hours)
Mean Plasma Levels of Pyridoxal 5´-Phosphate (PLP)
Time Frame: Study visit (0 up to 2 hours)
PLP will be assessed by study group and by timepoint where applicable.
Study visit (0 up to 2 hours)
Mean Serum Enzyme Activity Levels of Alkaline Phosphatase (ALP)
Time Frame: 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.
Study visit (0 up to 2 hours)
Mean Serum Enzyme Activity Levels of Bone-specific Alkaline Phosphatase (BSAP)
Time Frame: Study visit (0 hours)
BSAP will be measured using the standard clinical chemistry assays, by study group and by timepoint where applicable.
Study visit (0 hours)

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Percent Change from Baseline in Plasma Levels of PPi and PLP, by Sex
Time Frame: Study visit (0 to 2 hours)
Blood samples will be assessed by sex group.
Study visit (0 to 2 hours)
Percent Change from Baseline in Serum Enzyme Activity of ALP, by Sex
Time Frame: Study visit (0 to 2 hours)
Blood samples will be assessed by sex group.
Study visit (0 to 2 hours)
Percent Change from Baseline and Variability in Plasma Levels of PPi and PLP
Time Frame: Study visit (0 to 2 hours)
Variability of PPi and PLP will be assessed.
Study visit (0 to 2 hours)
Percent Change from Baseline and Variability in Serum Enzyme Activity of ALP
Time Frame: Study visit (0 to 2 hours)
Variability of ALP will be assessed.
Study visit (0 to 2 hours)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Daiichi Sankyo, Inc.

Collaborators

Thomas Jefferson University
PXE International

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 30, 2021

Primary Completion (Actual)

August 11, 2022

Study Completion (Actual)

August 11, 2022

Study Registration Dates

First Submitted

July 30, 2021

First Submitted That Met QC Criteria

August 23, 2021

First Posted (Actual)

August 27, 2021

Study Record Updates

Last Update Posted (Actual)

September 6, 2022

Last Update Submitted That Met QC Criteria

September 2, 2022

Last Verified

September 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • DS1211-A-U104

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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