Monogenic Kidney Stone - Genetic Testing
NCT03305835 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 6000
Last updated 2026-04-13
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.
Conditions
- Rare Kidney Stone Diseases
Sponsors & Collaborators
-
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
collaborator NIH - lead OTHER
Principal Investigators
-
David Sas, DO · Mayo Clinic
Eligibility
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2017-09-11
- Primary Completion
- 2028-02-29
- Completion
- 2028-02-29
Countries
- United States
Study Locations
More Related Trials
-
Genetic Identification of Monogenic Disorders in Early-onset Stroke Using Targeted Next Generation Sequencing Panel
NCT04485598 ·Status: COMPLETED
-
Mapping of End Stage Renal Disease Genetic Susceptibility in African Americans by Admixture Linkage Disequilibrium
NCT00559767 ·Status: COMPLETED
-
Genetics in the Progression of Nephropathies
NCT06416761 ·Status: RECRUITING
-
Genetic Variations That Increase the Risk for Calcium Kidney Stones: a Family-based Study
NCT06211842 ·Status: COMPLETED
-
Genetic Study to Identify Gene Mutations in Participants Previously Enrolled in Clinical Trial NCI-99-C-0053 Who Have Von Hippel-Lindau Syndrome or Are at Risk for Von Hippel-Lindau Syndrome
NCT00075348 ·Status: COMPLETED
-
Dent Disease Mutation Genotyping
NCT01783795 ·Status: COMPLETED ·Phase: NA
-
Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney Failure
NCT02194582 ·Status: ACTIVE_NOT_RECRUITING
-
Nephronophthisis : Clinical and Genetic Study
NCT01022957 ·Status: COMPLETED ·Phase: NA
-
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
NCT02450851 ·Status: RECRUITING
-
APOL1 Genetic Testing in African Americans
NCT05656261 ·Status: RECRUITING
-
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
NCT06595940 ·Status: RECRUITING
-
Observational Study of Advanced Data Analytics in Genetic Conditions
NCT05657405 ·Status: RECRUITING
-
Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
NCT01375543 ·Status: COMPLETED
-
Primary Hyperoxaluria Mutation Genotyping/Phenotyping
NCT02340689 ·Status: COMPLETED
-
Rare and Undiagnosed Disease Research Biorepository
NCT04703179 ·Status: ENROLLING_BY_INVITATION
-
Genome-wide Analysis of Single Nucleotide Polymorphisms of Brain Arteriovenous Malformations and Cerebral Aneurysm
NCT01801488 ·Status: TERMINATED
-
Research for Individualized Therapeutics in Rare Genetic Disease
NCT05236595 ·Status: ENROLLING_BY_INVITATION
-
Relation Between Polymorphism in Genes Related to Kidney Disease and Renal Manifistations in Fabry Disease
NCT00437944 ·Status: COMPLETED
-
Clinical Integration of Genetic Risk Assessment in Family Medicine
NCT00339794 ·Status: COMPLETED
-
Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing
NCT03605004 ·Status: COMPLETED
-
Study on Susceptibility Genes of Anterior Cruciate Ligament, Patella Dislocation and Discoid Meniscus
NCT04997538 ·Status: RECRUITING
-
Identifying New Genetic Causes to Development Disorders
NCT03283852 ·Status: RECRUITING
-
Genetic Analysis to Predict the Development of Paget's Disease
NCT05309954 ·Status: ACTIVE_NOT_RECRUITING
-
Genomics of Fibrin Clot Structure in Patients With Constitutional Dysfibrinogenemia
NCT05233384 ·Status: ACTIVE_NOT_RECRUITING
-
Analyzing Genes That May Increase the Risk of Developing High Blood Pressure
NCT00549991 ·Status: COMPLETED