Clinical Trial: Dent Disease Mutation Genotyping

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

Official Title: Screening for Dent Disease Mutations in Patients With Proteinuria

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 Summary: 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.
Sponsor: Mayo Clinic

Current Primary Outcome: Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene [ Time Frame: 4 years ]

Original Primary Outcome: To determine which genetic mutations are the cause of a more severe disease, in Dent Disease. [ Time Frame: 4 years ]

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Mayo Clinic

Dates:
Date Received: January 23, 2013
Date Started: August 2012
Date Completion: June 2017
Last Updated: February 8, 2017
Last Verified: February 2017