The Impact of Phosphate Metabolism on Healthy Aging
Yale University
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).
Description
The central hypothesis of this proposal is 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. The overall objectives of this project are to utilize our existing longitudinal databases for individuals with XLH and HHRH through an interdisciplinary collaboration between pediatric and adult endocrinology to: i) quantify the impact of exposure to Pi therapy across the lifesp…
Eligibility
- Age range
- 13+ years
- Sex
- All
- Healthy volunteers
- No
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 th…
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.
Location
- Yale University School of MedicineNew Haven, Connecticut