Pilot Study to Evaluate the Contribution of Gene Variants to Idiopathic Urolithiasis

Overview

About this study

Recent investigations from this group have identified that genetic variants of genes associated with monogenic forms of nephrolithiasis are expressed in idiopathic calcium oxalate kidney stone patients and could influence stone forming risk. Utilizing patient samples from the Mayo Clinic Florida Kidney Stone Registry, we will demonstrate that expression of these heterozygous mutations in idiopathic nephrolithiasis act as genetic modifiers of disease presentation increasing risk of kidney stone formation. Complimented by the analysis of environmental and lifestyle risk factors, these studies will define environmental and genetic susceptibility factors involved in kidney stone formation and reoccurrence.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

Cases:
- History of calcium oxalate stones.
- 18 years of age or older.
- Willing to provide a blood sample, and questionnaire.
Controls:
- 18 years of age or older.
- No personal history of urolithiasis.
- Willing to provide a blood sample and questionnaire.

Exclusion Criteria:

Cases:
- Secondary causes of urolithiasis including: Bowel disease, Renal tubular acidosis, hyperparathyroidism.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location	Status	Contact
Jacksonville, Fla. Mayo Clinic principal investigator Ivan Porter, M.D.	Closed for enrollment	Contact information: Arta Palaj M.B.A. Palaj.Arta@mayo.edu

Mayo Clinic Location

Status

Contact

Jacksonville, Fla.

Mayo Clinic principal investigator

Ivan Porter, M.D.

Closed for enrollment

Contact information:

Arta Palaj M.B.A.

Palaj.Arta@mayo.edu

More information

Publications

Publications are currently not available

Clinical Trials