Back to resultsDent Disease Mutation Genotyping
Primary Purpose
Dent Disease
Status
Completed
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
Genetic Analysis
Sponsored by
About this trial
This is an interventional screening trial for Dent Disease focused on measuring Dent, Dents, Dent Disease, Dent genetic testing, CLCN5, OCRL1, Genetic testing for Dent Disease, Hereditary study for Dent Disease
Eligibility Criteria
Inclusion Criteria:
- The patient has been diagnosed, or in the process of being diagnosed with Dent Disease.
- The patient has a family member diagnosed with Dent Disease.
Exclusion Criteria:
- None
Sites / Locations
- Mayo Clinic
Arms of the Study
Arm 1
Arm Type
Other
Arm Label
Genetic Analysis
Arm Description
Genetic Analysis
Outcomes
Primary Outcome Measures
Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene
Secondary Outcome Measures
Full Information
NCT ID
NCT01783795
First Posted
January 23, 2013
Last Updated
April 2, 2020
Sponsor
Mayo Clinic
Collaborators
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
1. Study Identification
Unique Protocol Identification Number
NCT01783795
Brief Title
Dent Disease Mutation Genotyping
Official Title
Screening for Dent Disease Mutations in Patients With Proteinuria
Study Type
Interventional
2. Study Status
Record Verification Date
April 2020
Overall Recruitment Status
Completed
Study Start Date
August 2012 (Actual)
Primary Completion Date
July 2019 (Actual)
Study Completion Date
July 2019 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Mayo Clinic
Collaborators
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
Yes
5. Study Description
Brief Summary
This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe disease in Dent Disease.
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 the subject's arm to obtain white blood cells. These white blood cells will be used as a source of DNA for genetic testing. The investigator 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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Dent Disease
Keywords
Dent, Dents, Dent Disease, Dent genetic testing, CLCN5, OCRL1, Genetic testing for Dent Disease, Hereditary study for Dent Disease
7. Study Design
Primary Purpose
Screening
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
180 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Genetic Analysis
Arm Type
Other
Arm Description
Genetic Analysis
Intervention Type
Other
Intervention Name(s)
Genetic Analysis
Primary Outcome Measure Information:
Title
Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene
Time Frame
4 years
10. Eligibility
Sex
All
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Inclusion Criteria:
The patient has been diagnosed, or in the process of being diagnosed with Dent Disease.
The patient has a family member diagnosed with Dent Disease.
Exclusion Criteria:
- None
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
John C. Lieske, MD
Organizational Affiliation
Mayo Clinic
Official's Role
Principal Investigator
Facility Information:
Facility Name
Mayo Clinic
City
Rochester
State/Province
Minnesota
ZIP/Postal Code
55905
Country
United States
12. IPD Sharing Statement
Plan to Share IPD
No
Links:
URL
http://www.rarekidneystones.org
Description
Rare Kidney Stone Consortium
Learn more about this trial
Dent Disease Mutation Genotyping
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