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NCT Number: NCT05025722

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.

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Key information

Conditions

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

Age range

18 year–75 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Thomas Jefferson University

Philadelphia, Pennsylvania, 19107, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Non Interventional

Other

This is an observational study.

Primary outcomes

  1. 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.

  2. 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.

  3. 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.

  4. 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.

Secondary outcomes

  1. 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.

  2. 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.

  3. 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.

  4. 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.

Sponsors and collaborators

Lead sponsor

Daiichi Sankyo

Industry

Collaborators

  • PXE International
  • Thomas Jefferson University

Registry information

Official study title

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

Important dates

Study start
2021
Primary completion
2022
Study completion
2022
First posted
Aug 27, 2021
Registry last updated
Sep 6, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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