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Dent Disease Mutation Genotyping

This study has been completed.
Information provided by (Responsible Party):
John Lieske, Mayo Clinic Identifier:
First received: January 23, 2013
Last updated: September 19, 2015
Last verified: September 2015
This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe disease in Dent Disease.

Condition Intervention
Dent Disease
Genetic: Genetic Analysis

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Screening
Official Title: Screening for Dent Disease Mutations in Patients With Proteinuria

Resource links provided by NLM:

Further study details as provided by Mayo Clinic:

Primary Outcome Measures:
  • To determine which genetic mutations are the cause of a more severe disease, in Dent Disease. [ Time Frame: 4 years ]

Estimated Enrollment: 602
Study Start Date: August 2012
Study Completion Date: September 2015
Primary Completion Date: September 2015 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Genetic Analysis
Genetic Analysis
Genetic: Genetic Analysis

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 your arm to obtain white blood cells. These white blood cells will be used as a source of DNA for genetic testing. We 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.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Inclusion Criteria:

  • The patient has been diagnosed, or in the process of being diagnosed with Dent Disease.
  • You have a family member diagnosed with Dent Disease.

Exclusion Criteria:

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01783795

United States, Minnesota
Mayo Clinic
Rochester, Minnesota, United States, 55905
Sponsors and Collaborators
Mayo Clinic
Principal Investigator: John C. Lieske, MD Mayo Clinic
  More Information

Additional Information:
Responsible Party: John Lieske, M.D., Mayo Clinic Identifier: NCT01783795     History of Changes
Other Study ID Numbers: 10-006442 
Study First Received: January 23, 2013
Last Updated: September 19, 2015

Keywords provided by Mayo Clinic:
Dent Disease
Dent genetic testing
Genetic testing for Dent Disease
Hereditary study for Dent Disease

Additional relevant MeSH terms:
Dent Disease
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Metabolic Diseases processed this record on January 19, 2017