NCT01783795

Dent Disease Mutation Genotyping

Screening for Dent Disease Mutations in Patients With Proteinuria

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 180 (actual)
• Sponsor: Mayo Clinic · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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.

Conditions

• Dent Disease

Interventions

Type	Name	Description
OTHER	Genetic Analysis

Timeline

• Start date: 2012-08-01
• Primary completion: 2019-07-01
• Completion: 2019-07-01
• First posted: 2013-02-05
• Last updated: 2020-04-06

Locations

1 site across 1 country: United States