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The Impact of Phosphate Metabolism on Healthy Aging

RecruitingEarly phase 1

Who can join

Ages 13 and older · All sexes

Full 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.

About the study

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).

What is being tested

Sponsor: Yale University · Participants: 30 · Started: Jan 1, 2019

Contact the study team

Official record on ClinicalTrials.gov — NCT03771105

Locations in the U.S.

ConnecticutYale University School of Medicine, New Haven

From ClinicalTrials.gov, data retrieved Oct 2, 2026. Each study sets its own eligibility; the study team decides who can join.