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

NCT05025722 | Completed

• 1 other identifier: DS1211-A-U104
• Study Type: observational
• Target: 48
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Pseudoxanthoma Elasticum

Keywords

Pseudoxanthoma Elasticum; Bone turnover biomarkers; Tissue mineralization biomarkers

Outcome Measures

Primary Outcomes (4)

• 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)

• 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)

• 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)

• 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 Outcomes (4)

• Percent Change from Baseline in Plasma Levels of PPi and PLP, by Sex

  Study visit (0 to 2 hours)

• Percent Change from Baseline in Serum Enzyme Activity of ALP, by Sex

  Study visit (0 to 2 hours)

• Percent Change from Baseline and Variability in Plasma Levels of PPi and PLP

  Study visit (0 to 2 hours)

• Percent Change from Baseline and Variability in Serum Enzyme Activity of ALP

  Study visit (0 to 2 hours)

Study Arms (3)

Confirmed PXE participants

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

Other: Non Interventional

PXE carrier participants

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

Other: Non Interventional

Non-PXE normal participants

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

Other: Non Interventional

Interventions

Non Interventional OTHER

This is an observational study.

Confirmed PXE participants; Non-PXE normal participants; PXE carrier participants

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify 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 qualify 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

Sponsors & Collaborators

• Daiichi Sankyo: lead
• PXE International: collaborator
• Thomas Jefferson University: collaborator

Study Sites (1)

Thomas Jefferson University

Philadelphia, Pennsylvania, 19107, United States

Location

MeSH Terms

Conditions

Pseudoxanthoma Elasticum

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases

Study Officials

• Global Clinical Leader

  Daiichi Sankyo

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 30, 2021
• First Posted: August 27, 2021
• Study Start: August 30, 2021
• Primary Completion: August 11, 2022
• Study Completion: August 11, 2022
• Last Updated: September 6, 2022

Record last verified: 2022-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)