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Completed

NCT Number: NCT01783795

Dent Disease Mutation Genotyping

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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Key information

Conditions

Dent Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Genetic Diseases, X-Linked Kidney Diseases Male Urogenital Diseases Renal Tubular Transport, Inborn Errors Urogenital Diseases Urologic Diseases

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Mayo Clinic

Rochester, Minnesota, 55905, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Genetic Analysis

Other

Primary outcomes

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

    Time frame: 4 years

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Collaborators

  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Registry information

Official study title

Screening for Dent Disease Mutations in Patients With Proteinuria

Important dates

Study start
2012
Primary completion
2019
Study completion
2019
First posted
Feb 5, 2013
Registry last updated
Apr 6, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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