RecruitingNCT03305835

Monogenic Kidney Stone - Genetic Testing

Characterization of Monogenic Kidney Stone Diseases


Sponsor

Mayo Clinic

Enrollment

6,000 participants

Start Date

Sep 11, 2017

Study Type

OBSERVATIONAL

Conditions

Summary

This study will attempt to identify the specific gene (coded in the DNA) and changes (mutations) within that gene that are the cause of monogenic kidney stone disease. This study will help researchers determine the characteristics of the stone disease associated with specific genes and mutations. This information may help develop more effective treatments for monogenic kidney stone diseases.


Eligibility

Plain Language Summary

Simplified for easier understanding

This study uses genetic testing to identify inherited (monogenic) causes of kidney stones and nephrocalcinosis (calcium buildup in the kidneys). Identifying a genetic cause can help doctors better tailor treatment and understand the long-term outlook. You may be eligible if: - You are under 18 with a history of kidney stones or nephrocalcinosis, OR - You are over 18 with kidney stones/nephrocalcinosis AND additional risk factors (family history, growth problems, unusual stone composition, kidney cysts, etc.), OR - Your doctor suspects a monogenic kidney stone disease, OR - You are a family member of someone who meets the above criteria You may NOT be eligible if: - You have kidney stones but your case does not suggest a genetic (monogenic) cause - You are unwilling or unable to provide consent Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(1)

Mayo Clinic

Rochester, Minnesota, United States

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NCT03305835