Dent DiseaseNCT01783795
Dent Disease Mutation Genotyping
A study testing Genetic Analysis in people with Dent Disease, run by Mayo Clinic at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Dent Disease
- What is being tested?
- Genetic Analysis
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 180 participants
- Where
- 1 siteUnited States
- Study dates
- Aug 2012to Jul 2019
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Screening for Dent Disease Mutations in Patients With Proteinuria
This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe disease in Dent Disease.
Read the 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.
- Conditions
- Dent Disease
- Being tested
- Genetic Analysis
- Keywords
- Dent, Dents, Dent Disease, Dent genetic testing, CLCN5, OCRL1, Genetic testing for Dent Disease, Hereditary study for Dent Disease
- Medical subject headings
- Dent Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic AnalysisOther
| Study group | Role | What they receive |
|---|---|---|
| Genetic Analysis | Other | Genetic Analysis Receives: Other: Genetic Analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene
Measured: 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Feb 2013 (estimated)
- Study startAug 2012
- Primary completionJul 2019
- Study completionJul 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Dent DiseaseStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 180 participants (actual)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, John Lieske, Mayo Clinic
- Investigators
- John C. Lieske, MD, Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01783795
- Sponsor's protocol ID
- 10-006442
- Other IDs
- U54DK083908
- Status last verified
- Apr 2020
- First submitted
- 23 Jan 2013
- Last updated
- 6 Apr 2020
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Apr 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Screening for Dent Disease Mutations in Patients With Proteinuria
- ClinicalTrials.gov ID
- NCT01783795
- Acronym / sponsor ID
- 10-006442
- Conditions
- Dent Disease
- Keywords
- Dent, Dents, Dent Disease, Dent genetic testing, CLCN5, OCRL1, Genetic testing for Dent Disease, Hereditary study for Dent Disease
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 180 participants (actual)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Collaborators
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Study start
- Aug 2012 (actual)
- Primary completion
- Jul 2019 (actual)
- Study completion
- Jul 2019 (actual)
- First posted
- 5 Feb 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Genetic Analysis | Other | Other: Genetic AnalysisGenetic Analysis |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic Analysis | Other | Genetic Analysis |
Primary outcome
Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene
Time frame: 4 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Apr 2020.
- Rare Kidney Stone ConsortiumLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
John C. Lieske, MD principal investigator
Mayo Clinic
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Genetic Analysis in people with Dent Disease, run by Mayo Clinic at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Apr 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene (time frame: 4 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Apr 2020.