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Phase Pilot

The Impact of Phosphate Metabolism on Healthy Aging

  • Study HIC#:2000023461
  • Last Updated:04/21/2023

Brief Summary:

Determine the association between duration and dose of chronic conventional therapy with Pi and renal (nephrocalcinosis/nephrolithiasis), vascular (endothelial function), and cardiovascular function (echo- cardiography) in patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH) and patients with X-linked hypophosphatemia (XLH).

  • Age13 years and older
  • GenderBoth

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Trial Purpose and Description

This incubator protocol tests the hypothesis that patients with X-linked hypophosphatemia (XLH), when matched for duration and dose of phosphate (Pi) therapy to patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH), will evidence greater cardiovascular and vascular debility than patients with HHRH.

Eligibility Criteria

Inclusion Criteria:

  • Children above the age of 13 years
  • Younger and older adults with XLH and HHRH with confirmed NPT2c mutations affecting both copies of the NPT2c gene (HHRH) or one copy of the PHEX gene (XLH)
  • Be willing to provide access to prior medical records to determine eligibility including imaging, biochemical, medical, and surgical history data
  • Be willing and able to complete all aspects of the study
  • Be willing to adhere to the study visit schedule and comply with the assessments (in the opinion of the investigator).

Exclusion Criteria:

  • Subjects will be excluded, if they are children younger than age 13 years
  • Subjects that have other diseases likely to impact bone and mineral metabolism (e.g. renal, hepatic, gastrointestinal disorders, and malignancy),
  • Subjects that are currently pregnant,
  • Subjects that received medical therapy or developed any condition, which in the opinion of the investigator, could present a concern for either subject safety or difficulty with data interpretation.
  • Subjects will be excluded from Aim 2, if they are unable to tolerate supplemental phosphate.

Principal Investigator


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