Can blood and urine markers reveal how rare kidney diseases progress?

NCT ID NCT02780297

First seen Aug 07, 2026 · Last updated Aug 07, 2026

Summary

This study follows people with rare inherited forms of kidney stones and chronic kidney disease, such as primary hyperoxaluria, cystinuria, and Dent disease, to learn how these conditions develop over time. Researchers will measure markers of inflammation in blood and urine and track kidney function over five years. By comparing different disorders, they hope to better understand the mechanisms that lead to kidney damage.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to
This research could uncover biological markers that help predict how rare kidney stone diseases progress, potentially guiding future treatments and monitoring strategies.
What could go wrong
This is an observational study, so it won't test any new treatment. The findings may not directly change care, and the small number of participants with each rare condition may limit how broadly the results apply.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Children's Hospital of Philadelphia

    NOT_YET_RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

  • Children's Hospital, Harvard Medical School

    NOT_YET_RECRUITING

    Boston, Massachusetts, 02115, United States

  • Children's Memorial Hospital

    NOT_YET_RECRUITING

    Chicago, Illinois, 60614, United States

  • Cincinnati Children's Hosptial Medical Center

    NOT_YET_RECRUITING

    Cincinnati, Ohio, 45229, United States

  • Hosptial of Sick Children

    NOT_YET_RECRUITING

    Toronto, Ontario, M5G 1X8, Canada

  • Landspitali Universtiy Hospital

    NOT_YET_RECRUITING

    Reykjavik, Iceland

  • Mayo Clinic Hyperoxaluria Center

    RECRUITING

    Rochester, Minnesota, 55905, United States

    Contact Email: •••••@•••••

    Contact Email: •••••@•••••

  • Mayo Clinic Jacksonville

    NOT_YET_RECRUITING

    Jacksonville, Florida, 32224, United States

  • New York University

    NOT_YET_RECRUITING

    New York, New York, 10010, United States

  • Shaare Zedek Medica Center

    NOT_YET_RECRUITING

    Jerusalem, Israel

  • University of Alabama @ Birmingham

    NOT_YET_RECRUITING

    Birmingham, Alabama, 35294, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.