Dent Disease Mutation Genotyping

Screening for Dent Disease Mutations in Patients With Proteinuria

Status

Completed

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT01783795

Enrollment

180

Registered

2013-02-05

Start date

2012-08-31

Completion date

2019-07-31

Last updated

2020-04-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Dent Disease

Keywords

Dent, Dents, Dent Disease, Dent genetic testing, CLCN5, OCRL1, Genetic testing for Dent Disease, Hereditary study for Dent Disease

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 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.

Interventions

OTHERGenetic Analysis

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

SCREENING

Masking

NONE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame
Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene	4 years

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026