Dent Disease Mutation Genotyping | NCT01783795

Studies
Dent Disease Mutation Genotyping

NCT01783795

Sponsor

Mayo Clinic

Status

Completed

Last Update Posted

Apr 6, 2020Actual

Enrollment

180Actual

Phase

Not Applicable

Conditions

Dent Disease

Interventions

Genetic Analysis

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
U54DK083908	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

Apr 2020

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Aug 2012Actual

Primary Completion Date

Jul 2019Actual

Completion Date

Jul 2019Actual

First Submitted Date

Jan 23, 2013

First Submission Date that Met QC Criteria

Feb 1, 2013

First Posted Date

Feb 5, 2013Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 2, 2020

Last Update Posted Date

Apr 6, 2020Actual

Name	Class
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)	NIH

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

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.

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

180Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Genetic Analysis	Other	Genetic Analysis	Other: Genetic Analysis

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Genetic Analysis	Other		Genetic Analysis

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene		4 years

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
John C. Lieske, MD	Mayo Clinic	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Mayo Clinic		Rochester	Minnesota	55905	United States

Label	URL
Rare Kidney Stone Consortium	View source

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D057973	Dent Disease

Ancestor Terms

ID	Term
D015499	Renal Tubular Transport, Inborn Errors
D007674	Kidney Diseases
D014570	Urologic Diseases
D052776	Female Urogenital Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D005820	Genetic Testing

Ancestor Terms

ID	Term
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis
D008919	Investigative Techniques

Browse Leaves

Not provided

Browse Branches

Not provided