Dent Disease Mutation Genotyping

Mayo Clinic

Status: Completed

Conditions: Dent Disease

Treatments: Other: Genetic Analysis

Study type: Interventional

Funder types: Other; NIH

Identifiers

NCT01783795

U54DK083908 (U.S. NIH Grant/Contract)

10-006442

Details and patient eligibility

About

This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe disease in Dent Disease.

Full 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.

Enrollment: 180 patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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

Trial design

Primary purpose: Screening

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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180 participants in 1 patient group

Genetic Analysis

Other group

Description:

Genetic Analysis

Treatment:

Other: Genetic Analysis