The Impact of Phosphate Metabolism on Healthy Aging
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-
| Condition(s) | Hypophosphatemia, Rickets, Hypercalciuria, XLH, HHRH |
|---|---|
| Status | Recruiting |
| Phase | EARLY_Phase 1 |
| Study type | Interventional |
| 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). |
| Who can participate | 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 th |
| Ages | 13 Years |
| Sex | All |
| Lead sponsor | Yale University |
| Locations | New Haven, Connecticut, United States |
| Start date | 2019-01-01 |
| NCT ID | NCT03771105 |
| Official listing | https://clinicaltrials.gov/study/NCT03771105 |