Actively Recruiting

Early Phase 1
Age: 13Years +
All Genders
ID03771105

The Impact of Phosphate Metabolism on Healthy Aging in Patients with Hereditary Hypophosphatemic Rickets and X-linked Hypophosphatemia

Led by Yale University · Updated on 2026-05-27

30

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

Sponsors

Y

Yale University

Lead Sponsor

N

National Center for Advancing Translational Sciences (NCATS)

Collaborating Sponsor

AI-Summary

What this Trial Is About

Researchers are studying how long-term use and dosage of phosphate therapy affect kidney, blood vessel, and heart function in people with hereditary hypophosphatemic rickets with hypercalciuria (HHRH) and X-linked hypophosphatemia (XLH). The study aims to compare cardiovascular and vascular health between these two groups, focusing on the impact of phosphate treatment over time and the immediate response to phosphate intake. This research involves collaboration between pediatric and adult endocrinology specialists using existing patient data. Participants include patients with HHRH and XLH who will receive phosphate supplements to reach a daily intake of 3,500 mg through dietary and supplemental sources. Some patients will take phosphate treatment for 30 days to study its effects. The study groups consist of patients with HHRH and XLH, including subgroups receiving active phosphate treatment. The study is non-randomized and open-label. Throughout the study, participants will provide medical history and undergo assessments including measurements of parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23) levels after 30 days. Researchers will monitor kidney, cardiovascular, and vascular health using various tests and will track treatment adherence. The study began in 2019 and is expected to continue until 2028, with ongoing evaluations of phosphate therapy's effects on aging-related health outcomes.

CONDITIONS

Brief Title

The Impact of Phosphate Metabolism on Healthy Aging

Who Can Participate

Age: 13Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Children aged 13 years or older
  • Diagnosed with X-linked hypophosphatemia (XLH) or hereditary hypophosphatemic rickets with hypercalciuria (HHRH) confirmed by specific gene mutations
  • Willing to provide access to past medical records including imaging and lab data
  • Able and willing to complete all study procedures
  • Able to follow the study visit schedule and assessments as judged by the investigator
Not Eligible

You will not qualify if you...

  • Children younger than 13 years
  • Having other diseases affecting bone or mineral metabolism such as kidney, liver, gastrointestinal disorders, or cancer
  • Currently pregnant
  • Received medical therapy or have conditions that may affect safety or data interpretation as judged by the investigator
  • Unable to tolerate supplemental phosphate for certain study parts

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey: What to Expect

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Treatment

Duration - 30 days

Participants take phosphate supplements to reach a target daily phosphate intake of 3,500 mg per day.

Approximately 1 visit for treatment initiation and assessments

Trial Site Locations

Total: 1 location

1

Yale University School of Medicine

New Haven, Connecticut, United States, 06511

Actively Recruiting

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Research Team

C

Clemens Bergwitz, MD

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

NON_RANDOMIZED

Model

PARALLEL

Primary Purpose

TREATMENT

Number of Arms

4

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