About this trial
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 criteria
Qualifiers
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
Disqualifiers
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.
Trial design
Treatments tested in this trial
- phosphate
Treatment groups
Sponsors and collaborators
Yale University
Lead sponsor
National Center for Advancing Translational Sciences (NCATS)
Collaborator