This observational study aims to identify the specific genes and genetic changes (mutations) that cause rare kidney stone diseases. Researchers hope to understand how these genetic changes affect the disease, which could lead to better treatments. You might be eligible if you are under 18 with a history of kidney stones or nephrocalcinosis (calcium deposits in the kidneys), or if you are over 18 with kidney stones/nephrocalcinosis and a family history of stones or unexplained kidney failure, or growth problems. The study is looking to enroll 6000 participants. The main goal is to track when symptoms of monogenic stone disease first appear over five years. The recruitment status is currently unclear.

Study design

This is an observational study planning to enroll 6000 participants. It aims to identify specific genes and mutations related to rare kidney stone diseases.

What's involved

You would provide a blood sample or buccal (cheek) cell collection for DNA/RNA isolation and complete a kidney stone history questionnaire. Family members may also be asked to complete a 24-hour urine collection.

Compensation

Not stated in the trial record.

Follow-up

The primary endpoint, symptomatic onset of monogenic stone disease, will be measured at 5 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.