Dent Disease Mutation Genotyping

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

180 participants

Study Classification

INTERVENTIONAL

Study Start Date

2012-08-31

Study Completion Date

2019-07-31

Brief Summary

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

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Detailed Description

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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

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Dent Disease

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

SCREENING

Blinding Strategy

NONE

Study Groups

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Genetic Analysis

Group Type OTHER

Genetic Analysis

Intervention Type OTHER

Interventions

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Genetic Analysis

Intervention Type OTHER

Eligibility Criteria

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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.