Screening for Dent Disease Mutations in Patients With Proteinuria
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- Mayo Clinic
- Enrollment
- 180
- Locations
- 2
- Primary Endpoint
- Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene
Study Overview
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.
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Screening
- Masking
- None
Eligibility Criteria
- Sex
- All
- Accepts Healthy Volunteers
- Yes
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
- Not provided
Outcomes
Primary Outcomes
Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene
Time Frame: 4 years
Secondary Outcomes
No secondary outcomes reported
Investigators
John Lieske
M.D.
Mayo Clinic