The Impact of Phosphate Metabolism on Healthy Aging

• Status: Recruiting
• Trial end date: 2022-11-30
• Target enrollment: 0
• Participant gender: All

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).

• Phase: Early Phase 1
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Yale University

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.