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Dent Disease Mutation Genotyping

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01783795
Recruitment Status : Completed
First Posted : February 5, 2013
Last Update Posted : August 19, 2019
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Information provided by (Responsible Party):
John Lieske, Mayo Clinic

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.

Condition or disease Intervention/treatment Phase
Dent Disease Genetic: Genetic Analysis Not Applicable

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.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 180 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Screening
Official Title: Screening for Dent Disease Mutations in Patients With Proteinuria
Actual Study Start Date : August 2012
Actual Primary Completion Date : July 2019
Actual Study Completion Date : July 2019

Arm Intervention/treatment
Genetic Analysis
Genetic Analysis
Genetic: Genetic Analysis

Primary Outcome Measures :
  1. Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene [ Time Frame: 4 years ]

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
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.
  • The patient has a family member diagnosed with Dent Disease.

Exclusion Criteria:

- None

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01783795

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United States, Minnesota
Mayo Clinic
Rochester, Minnesota, United States, 55905
Sponsors and Collaborators
Mayo Clinic
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
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Principal Investigator: John C. Lieske, MD Mayo Clinic

Additional Information:
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Responsible Party: John Lieske, M.D., Mayo Clinic Identifier: NCT01783795     History of Changes
Other Study ID Numbers: 10-006442
U54DK083908 ( U.S. NIH Grant/Contract )
First Posted: February 5, 2013    Key Record Dates
Last Update Posted: August 19, 2019
Last Verified: August 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by John Lieske, Mayo Clinic:
Dent Disease
Dent genetic testing
Genetic testing for Dent Disease
Hereditary study for Dent Disease
Additional relevant MeSH terms:
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Dent Disease
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Metabolic Diseases