RecruitingEarly Phase 1NCT03771105

The Impact of Phosphate Metabolism on Healthy Aging

Sponsor

Yale University

Enrollment

30 participants

Start Date

Jan 1, 2019

Study Type

INTERVENTIONAL

Conditions

Rickets Hypophosphatemia Hypercalciuria XLH HHRH

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).

Eligibility

Min Age: 13 Years

Inclusion Criteria5

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 Criteria5

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.

Interested in this trial?

Get notified about updates and connect with the research team.

Interventions

DRUGphosphate

The target daily phosphate (Pi) intake is 3,500 mg/day (dietary intake plus our supplementation) for this study. Subjects will take a supplement of Pi (as KPhos Neutral 250 mg/tablet) to reach this target. Subjects will receive treatment for 30 days.