The Impact of Phosphate Metabolism on Healthy Aging

Trial statusRecruiting
Trial phaseEarly Phase 1
Trial typeInterventional
Biological sexAll
Age13+
SponsorYale University

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

30 Participants
are divided into 4 treatment groups

Sponsors and collaborators

Yale University

Lead sponsor

National Center for Advancing Translational Sciences (NCATS)

Collaborator