Genetic Testing for Kidney Stones

Overseen By Ryan Steinberg, MD

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Ryan L Steinberg

Must not be taking: Acetazolamide, Topiramate, Zonisamide, Valproic acid

Disqualifiers: Struvite stones, Systemic acidosis, CKD, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 1

15 Participants Needed

Trial Summary

What is the purpose of this trial?

Kidney stones continue to affect more and more people in the United States with the most recent estimate being 1 in 9 people will develop a stone in their life. While family history is a known risk factor for stone disease, it remains unclear whether this is related to learned dietary habits or a truly inheritable genetic condition. Known inheritable genetic conditions linked to stone formation are uncommon, and thus, routine genetic testing is not currently recommended by any major urologic organizations. Patients who form calcium phosphate predominant stones, a less common type of stone composition, tend to have alkaline urine pH which suggests that the kidneys are unable to rid the body of acid. Management of such patients for stone prevention can be difficult. The Iowa Institute for Human Genomics is one of only a handful of commercial labs which offers genetic testing for stone disease. The aim of this study is to assess the rate of genetic abnormalities amongst calcium phosphate predominant stone formers with alkaline urine. To this end, the investigators plan to enroll calcium phosphate predominant stone forming patients with alkaline urine on 24 hour urine collection who obtain their health care at UIHC to undergo free genetic testing via blood draw to assess for genetic abnormalities. The investigators will also collect information already available in the subject's chart to assess for other patterns between blood and urine tests and any genetic variants.

Eligibility Criteria

This trial is for individuals who have a history of forming calcium phosphate kidney stones and exhibit alkaline urine. Participants will be selected from those receiving care at UIHC and must not have other known genetic conditions linked to stone formation.

Inclusion Criteria

I am 18-90 years old, not in prison, have kidney stones mostly made of calcium phosphate, and my urine pH is over 6.3.

Exclusion Criteria

No struvite component on prior stone analysis

Pregnancy

No history or evidence of systemic acidosis

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Genetic Testing

Participants undergo free genetic testing via blood draw to assess for genetic abnormalities

1-2 weeks

1 visit (in-person)

Data Collection

Collection of information from the subject's chart to assess patterns between blood and urine tests and any genetic variants

Ongoing throughout the study

Follow-up

Participants are monitored for safety and effectiveness after genetic testing

4 weeks

Treatment Details

Interventions

• Genetic testing

Trial Overview The study aims to identify genetic abnormalities in patients with calcium phosphate kidney stones through blood tests. It investigates whether these stones are due to inheritable genes rather than lifestyle or dietary habits.

Participant Groups

Group I: Calcium Phosphate genetic testing Experimental Treatment 1 Intervention

drawing blood samples from patients in Urology clinic

Who Is Running the Clinical Trial?

Ryan L Steinberg

Lead Sponsor