Dent Disease Mutation Genotyping
Not Applicable
Completed
- Conditions
- Dent Disease
- Interventions
- Other: Genetic Analysis
- Registration Number
- NCT01783795
- Lead Sponsor
- Mayo Clinic
- 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 180
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
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Genetic Analysis Genetic Analysis Genetic Analysis
- Primary Outcome Measures
Name Time Method Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene 4 years
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Mayo Clinic
🇺🇸Rochester, Minnesota, United States