The Impact of Phosphate Metabolism on Healthy Aging
- Study HIC#:2000023461
- Last Updated:01/01/0001
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
For more information about this study, including how to volunteer, contact:
- Phone Number: 1-203-737-5450
Help Us Discover!
You can help our team find trials you might be eligible for by creating a volunteer profile in MyChart. To get started, create a volunteer profile, or contact firstname.lastname@example.org, or call +18779788343 for more information.
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.
- 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).
- 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.