Evaluation of Genetic Abnormalities Amongst Calcium Phosphate Stone Formers

NCT ID: NCT06974357

Last Updated: 2025-05-21

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 15 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2025-03-15
• Study Completion Date: 2027-03-01

Brief Summary

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.

Conditions

Nephrolithiasis

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: SCREENING
• Blinding Strategy: NONE

Study Groups

Calcium Phosphate genetic testing

drawing blood samples from patients in Urology clinic

Group Type: EXPERIMENTAL

Genetic testing

Intervention Type: DIAGNOSTIC_TEST

blood draws for genetic testing

Interventions

Genetic testing

blood draws for genetic testing

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

Inclusion Criteria

• Any patient, aged 18-90 and not incarcerated, under the care of a urologist at UIHC with known kidney stone composition including >=60% calcium phosphate and baseline 24 hour urine pH of >=6.3

Exclusion Criteria

• Any patient over the age of 90 years old, incarcerated or without any evidence of calcium phosphate stone composition

• No struvite component on prior stone analysis
• No bacteria with urease producing organism at time of stone removal
• No history or evidence of systemic acidosis
• No use of acetazolamide, topiramate, zonisamide, valproic acid
• Stage >=3 CKD (GFR<60)
• Hepatic disease
• Pregnancy
• History of osteoporosis

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 90 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Ryan L Steinberg

OTHER

Sponsor Role: lead

Responsible Party

Ryan L Steinberg

Clinical Assistant Professor

Responsibility Role: SPONSOR_INVESTIGATOR

Locations

University of Iowa

Iowa City, Iowa, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Ryan Steinberg, MD

Role: CONTACT

ryan-steinberg@uiowa.edu

3196787089

Facility Contacts

Ryan Steinberg

Role: primary

ryan-steinberg@uiowa.edu

319-678-7089

Other Identifiers

202503463

Identifier Type: -

Identifier Source: org_study_id