Dent Disease Mutation Genotyping

Dent Disease Clinical Trial

Official title:

Screening for Dent Disease Mutations in Patients With Proteinuria

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01783795
• Other study ID #: 10-006442
• Secondary ID: U54DK083908
• Status: Completed
• Phase: N/A
• Start date: August 2012
• Est. completion date: July 2019

Study information

• Verified date: April 2020
• Source: Mayo Clinic
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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 information / eligibility

• Status: Completed
• Enrollment: 180
• Est. completion date: July 2019
• Est. primary completion date: July 2019
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Dent Disease

Intervention

Other:
• Genetic Analysis

Locations

Country	Name	City	State
United States	Mayo Clinic	Rochester	Minnesota

Sponsors (2)

Lead Sponsor	Collaborator
Mayo Clinic	National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene		4 years

External Links

•   Rare Kidney Stone Consortium