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The Impact of Phosphate Metabolism on Healthy Aging

RecruitingEARLY Phase 1Ages 13 Years - anyAllYale University
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In plain words

What the trial is, and whether it could suit you

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).

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
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.
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What it tests

  • phosphate
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Where

1 site
Yale University School of Medicine
New Haven, United States
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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