Monogenic Kidney Stone - Genetic Testing
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT03305835|
Recruitment Status : Recruiting
First Posted : October 10, 2017
Last Update Posted : May 14, 2019
|Condition or disease|
|Rare Kidney Stone Diseases|
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.
|Study Type :||Observational|
|Estimated Enrollment :||2300 participants|
|Official Title:||Characterization of Monogenic Kidney Stone Diseases|
|Actual Study Start Date :||September 11, 2017|
|Estimated Primary Completion Date :||December 2020|
|Estimated Study Completion Date :||December 2020|
- symptomatic onset of monogenic stone disease [ Time Frame: 5 years ]To identify and define the etiology of monogenic diseases causing nephrolithiasis and nephrocalcinosis by the 90 gene mutation possibly for identification.
- Genotype markers [ Time Frame: 5 years ]Provide definitive genetic information for research diagnostics by the 90 gene mutation possibly for identification.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03305835
|Contact: Barb Seide||800-270-4637||RareKidneyStones@mayo.edu|
|Contact: Carly Banks||800-270-4637||RareKidneyStones@mayo.edu|
|United States, Minnesota|
|Rochester, Minnesota, United States, 55905|
|Contact: Barbara Seide 507-255-0387 firstname.lastname@example.org|
|Contact: Hyperoxaluria Center 800-270-4637 email@example.com|
|Principal Investigator:||John Lieske, MD||Mayo Clinic|