Ignite Creation Date:
2025-12-24 @ 10:18 PM
Ignite Modification Date:
2026-01-02 @ 1:52 PM
Study NCT ID:
NCT03305835
Status:
RECRUITING
Last Update Posted:
2025-04-04
First Post:
2017-10-05
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Monogenic Kidney Stone - Genetic Testing
Sponsor:
Mayo Clinic
Organization:
Study Overview
Official Title:
Characterization of Monogenic Kidney Stone Diseases
Status:
RECRUITING
Status Verified Date:
2025-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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.
Detailed Description:
Have a blood test (about 2 teaspoons; ½ to 1 teaspoons for children) or buccal cell collection for DNA or RNA isolation • Complete a kidney stone history questionnaire
In addition to the above testing, family members may be asked to participate in the following:
• Complete a 24 hr. urine collection Your samples will undergo genetic testing. We will share the results with your local doctor. All family members, of a patient whose genetic testing showed no known mutations, will not be tested. These samples will be stored for future research.
In addition to the above testing, family members may be asked to participate in the following:
• Complete a 24 hr. urine collection Your samples will undergo genetic testing. We will share the results with your local doctor. All family members, of a patient whose genetic testing showed no known mutations, will not be tested. These samples will be stored for future research.
Study Oversight
Has Oversight DMC:
True
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
False
Is an FDA AA801 Violation?:
Secondary ID Infos
| Secondary ID | Type | Domain | Link | View |
|---|---|---|---|---|
| U54DK083908 | NIH | None | https://reporter.nih.gov/quic… | View |