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

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial explores whether genetic factors contribute to the development of a specific type of kidney stone composed mainly of calcium phosphate. Researchers aim to determine if individuals with these stones and alkaline (less acidic) urine share certain genetic traits. Participants will receive a free genetic test to identify any genetic abnormalities linked to their condition. The trial seeks individuals with kidney stones containing more than 60% calcium phosphate and consistently alkaline urine. As an unphased trial, it offers participants the chance to contribute to groundbreaking research that could enhance understanding and management of their condition.

Will I have to stop taking my current medications?

The trial requires that you do not use certain medications, specifically acetazolamide, topiramate, zonisamide, and valproic acid. If you are taking any of these, you would need to stop before participating.

What prior data suggests that this genetic testing is safe?

Research has shown that genetic testing for kidney stones can be safely conducted with a simple blood test. This method is easy and typically causes no discomfort or side effects. Studies highlight the importance of genetic testing for individuals who develop kidney stones, especially those with a family history. Identifying genetic factors can aid in managing and preventing kidney stones. No major reports of negative effects from the genetic testing process have emerged, making it a safe choice for potential trial participants. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about genetic testing for kidney stones because it offers a personalized approach to treatment. Unlike traditional methods, which often involve managing symptoms with medications or surgery, genetic testing aims to identify specific genetic factors that contribute to kidney stone formation. This can lead to tailored prevention strategies and more effective treatments for individuals based on their genetic makeup. By understanding the genetic causes, doctors can potentially reduce the likelihood of recurrence, providing a more precise and long-term solution for patients.

What evidence suggests that genetic testing is effective for identifying genetic abnormalities in calcium phosphate stone formers?

Research shows that genetics significantly influence the formation of kidney stones, with 30-60% of cases having a family history. Over 30 specific genetic conditions link to kidney stones. Studies have found that failing to identify a genetic cause can lead to serious issues like kidney failure. This trial will focus on genetic testing, specifically Calcium Phosphate genetic testing, to help detect these conditions early, leading to better prevention and treatment. Experts recommend genetic testing, especially for young adults and those at high risk, to identify possible genetic causes of kidney stones. ^{4 5 6 7 8}

Are You a Good Fit for This Trial?

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 for a Trial Participant

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

What Are the Treatments Tested in This Trial?

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.

How Is the Trial Designed?

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

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11374836/

Role of Genetic Testing in Kidney Stone Disease We recommend genetic testing using a gene panel for all children, adults < 25 years, and older patients who have factors associated with high risk disease.

2. blueprintgenetics.com blueprintgenetics.com/tests/panels/metabolic-disorders/nephrolithiasis-panel/

Nephrolithiasis Panel Blueprint Genetics' Nephrolithiasis Panel Is ideal for patients with nephrolithiasis / hypercalciuria.

3. frontiersin.org frontiersin.org/journals/medicine/articles/10.3389/fmed.2025.1631281/full

Genetics of kidney stones and the role of genetic testing in ... Several studies underline the clinical importance of genetic testing in kidney stone formers: a missed diagnosis can easily lead to kidney failure, even after ...

4. academic.oup.com academic.oup.com/ndt/article/39/9/1426/7636490

Prevalence and characteristics of genetic disease in adult ... Kidney stone formation is strongly influenced by genetic factors (positive family history in 30–60%) and >30 Mendelian forms of kidney stone ...

5. pcori.org pcori.org/research-results/2024/recurrent-nephrolithiasis-adults-and-children-comparative-effectiveness-preventive-medical-strategies-systematic-review

Recurrent Nephrolithiasis in Adults and Children Does effectiveness vary by blood or urine chemistry or genetic testing performed as followup after treatment is initiated? KQ 2: What are the ...

6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC12331670/

Genetics of kidney stones and the role of genetic testing in ... Several studies underline the clinical importance of genetic testing in kidney stone formers: a missed diagnosis can easily lead to kidney ...

7. sciencedirect.com sciencedirect.com/science/article/abs/pii/S0090429524005557

The Yield of Genetic Testing in Management ... Fourteen of 36 patients (39%) who underwent genetic testing had identifiable mutations. Five patients (14%) had known pathogenic mutations, including genes for ...

8. ajkd.org ajkd.org/article/S0272-6386(25)00865-0/fulltext

Understanding Rare Kidney Stone Diseases: A Review Genetic testing should be considered when there are clinical clues of an increased likelihood of an inherited condition such as consanguinity, ...