NCT01783795

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
180

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Aug 2012

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

August 1, 2012

Completed
6 months until next milestone

First Submitted

Initial submission to the registry

January 23, 2013

Completed
13 days until next milestone

First Posted

Study publicly available on registry

February 5, 2013

Completed
6.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2019

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2019

Completed
Last Updated

April 6, 2020

Status Verified

April 1, 2020

Enrollment Period

6.9 years

First QC Date

January 23, 2013

Last Update Submit

April 2, 2020

Conditions

Dent Disease

Keywords

DentDentsDent DiseaseDent genetic testingCLCN5OCRL1Genetic testing for Dent DiseaseHereditary study for Dent Disease

Outcome Measures

Primary Outcomes (1)

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

    4 years

Study Arms (1)

Genetic Analysis

OTHER

Genetic Analysis

Other: Genetic Analysis

Interventions

Genetic AnalysisOTHER
Genetic Analysis

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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.

You may not qualify if:

  • \- None

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location

Related Links

MeSH Terms

Conditions

Dent Disease

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Renal Tubular Transport, Inborn ErrorsKidney DiseasesUrologic DiseasesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Clinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisInvestigative TechniquesGenetic TechniquesGenetic ServicesHealth ServicesHealth Care Facilities Workforce and ServicesDiagnostic ServicesPreventive Health Services

Study Officials

  • John C. Lieske, MD

    Mayo Clinic

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
SCREENING
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
M.D.

Study Record Dates

First Submitted

January 23, 2013

First Posted

February 5, 2013

Study Start

August 1, 2012

Primary Completion

July 1, 2019

Study Completion

July 1, 2019

Last Updated

April 6, 2020

Record last verified: 2020-04

Data Sharing

IPD Sharing
Will not share

Locations

US(1)