Try our beta test site
IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more...

Dent Disease Mutation Genotyping

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2017 by Mayo Clinic
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Information provided by (Responsible Party):
John Lieske, Mayo Clinic Identifier:
First received: January 23, 2013
Last updated: February 8, 2017
Last verified: February 2017
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: No masking
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:
  • Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene [ Time Frame: 4 years ]

Estimated Enrollment: 180
Actual Study Start Date: August 2012
Estimated Study Completion Date: June 2017
Estimated Primary Completion Date: June 2017 (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 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.

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.
  • The patient has a family member diagnosed with Dent Disease.

Exclusion Criteria:

- None

  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

Contact: Barbara M Seide 507-255-0387
Contact: Mayo Clinic Hyperoxaluria Center 800-270-4637

United States, Minnesota
Mayo Clinic Recruiting
Rochester, Minnesota, United States, 55905
Contact: Barbara M Seide    507-255-0387   
Contact: Mayo Clinic Hyperoxaluria Center    800-270-4637   
Principal Investigator: John C Lidske, MD         
Sponsors and Collaborators
Mayo Clinic
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
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
U54DK083908 ( US NIH Grant/Contract Award Number )
Study First Received: January 23, 2013
Last Updated: February 8, 2017
Individual Participant Data  
Plan to Share IPD: No

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 May 23, 2017