Dent Disease Mutation Genotyping
This study is currently recruiting participants.
Verified January 2013 by Mayo Clinic
Sponsor:
Mayo Clinic
Information provided by (Responsible Party):
John Lieske, Mayo Clinic
ClinicalTrials.gov Identifier:
NCT01783795
First received: January 23, 2013
Last updated: February 1, 2013
Last verified: January 2013
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Purpose
This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe disease in Dent Disease.
| Condition | Intervention |
|---|---|
|
Dent Disease |
Genetic: Genetic Analysis |
| Study Type: | Interventional |
| Study Design: | Intervention Model: Single Group Assignment Masking: Open Label Primary Purpose: Screening |
| Official Title: | Screening for Dent Disease Mutations in Patients With Proteinuria |
Resource links provided by NLM:
Further study details as provided by Mayo Clinic:
Primary Outcome Measures:
- To determine which genetic mutations are the cause of a more severe disease, in Dent Disease. [ Time Frame: 4 years ] [ Designated as safety issue: No ]
| Estimated Enrollment: | 602 |
| Study Start Date: | August 2012 |
| Estimated Study Completion Date: | December 2020 |
| Estimated Primary Completion Date: | December 2020 (Final data collection date for primary outcome measure) |
| Arms | Assigned Interventions |
|---|---|
|
Genetic Analysis
Genetic Analysis
|
Genetic: Genetic Analysis |
Detailed Description:
During this study visit, the investigator will draw one tube, about two teaspoonfuls (1 to 1 ½ teaspoons for children), of blood from your arm to obtain white blood cells. These white blood cells will be used as a source of DNA for genetic testing. We will use the isolated DNA to try to identify the gene that is defective in Dent Disease by comparing it with the structure of genes in normal individuals, patients with Dent Disease, and family members for Dent Disease.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
Criteria
Inclusion Criteria:
- The patient has been diagnosed, or in the process of being diagnosed with Dent Disease.
- You have a family member diagnosed with Dent Disease.
Exclusion Criteria:
-
Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01783795
Contacts
| Contact: Barbara M Seide | 507-255-0837 | seide.barbara@mayo.edu |
| Contact: Mayo Clinic Hyperoxaluria Center | 800-270-4637 | hyperoxaluriacenter@mayo.edu |
Locations
| United States, Minnesota | |
| Mayo Clinic | Recruiting |
| Rochester, Minnesota, United States, 55905 | |
| Contact: John C. Lieske, MD 507-266-7960 lieske.john@mayo.edu | |
Sponsors and Collaborators
Mayo Clinic
Investigators
| Principal Investigator: | John C. Lieske, MD | Mayo Clinic |
More Information
Additional Information:
No publications provided
| Responsible Party: | John Lieske, M.D., Mayo Clinic |
| ClinicalTrials.gov Identifier: | NCT01783795 History of Changes |
| Other Study ID Numbers: | 10-006442 |
| Study First Received: | January 23, 2013 |
| Last Updated: | February 1, 2013 |
| Health Authority: | NIH: Data Safety Monitoring Board |
Keywords provided by Mayo Clinic:
|
Dent Dents Dent Disease Dent genetic testing |
CLCN5 OCRL1 Genetic testing for Dent Disease Hereditary study for Dent Disease |
Additional relevant MeSH terms:
|
Dent Disease Renal Tubular Transport, Inborn Errors Kidney Diseases Urologic Diseases |
Genetic Diseases, X-Linked Genetic Diseases, Inborn Metabolism, Inborn Errors Metabolic Diseases |
ClinicalTrials.gov processed this record on May 16, 2013