Dent Disease Mutation Genotyping

Mayo Clinic180 enrolled

Overview

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

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.

Study Type

INTERVENTIONAL

Allocation

Purpose

SCREENING

Masking

NONE

Enrollment

180

Conditions

Dent Disease

Interventions

Genetic AnalysisOTHER

Eligibility

Sex: ALLHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (1)

Mayo Clinic

Rochester, Minnesota, United States

Outcomes

Primary Outcomes

Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene

Time frame: 4 years

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.