Gitelman SyndromeNCT00822107
A Translational Approach to Gitelman Syndrome
A study testing Hydrochlorothiazide in people with Gitelman Syndrome, run by Oregon Health and Science University at 1 site in United States.
Trial summary
This study will test the response to a single dose of thiazide diuretic as a diagnostic test for Gitelman syndrome. Individuals with hypokalemic alkalosis will be enrolled. After a baseline study, they will have the response to 50 mg hydrochlorothiazide on fractional chloride excretion examined. Read more about this study
- Who is it for?
- Ages 21 to 65 years
- Conditions the study is for
- Gitelman Syndrome
- What is being tested?
- Hydrochlorothiazide
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 8 participants
- Where
- 1 siteUnited States
- Study dates
- Jan 2009to Sep 2013
- Phase
- Interventional
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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 21 to 65 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Institutional Review Board (IRB) approved written Informed Consent and Health Insurance Portability and Accountability Act (HIPAA) Authorization as per national regulations, must be obtained from the subject or legally authorized representative prior to any study-related procedures (including withdrawal of prohibited medication, if applicable).
- Subject is between the ages of 21 and 60.
- Female subjects of child bearing potential must have a negative urine pregnancy test at the screening visit (Study Visit 1) and must agree to maintain effective birth control during the study.
- Subjects who are referred to Dr. Ellison for evaluation of normotensive hypokalemia of unknown etiology
Who cannot join
- Subject has known allergy to thiazide or sulfonamide medications
- Subject is pregnant or lactating.
- Subject has major systemic illnesses that affect potassium regulation through pathology or pharmacologic treatment. This category includes:
- Hypertension
- Requiring regular pharmacological control
- History of blood pressure greater than 140mmHg systolic and 90mmHg diastolic
Show all 9Show fewer
- Congestive heart failure
- Cirrhosis of the liver
- Subject has documented kidney disease resulting in anuria, proteinuria or abnormal urinalysis, or requiring dialysis for treatment.
Trial locations and contacts
1 site in 1 country.
United States1 site
Oregon Health & Science University
Portland, Oregon, 97239
About this study
This study will test the response to a single dose of thiazide diuretic as a diagnostic test for Gitelman syndrome. Individuals with hypokalemic alkalosis will be enrolled. After a baseline study, they will have the response to 50 mg hydrochlorothiazide on fractional chloride excretion examined.
Read the detailed description
The purpose of this study is to test the hypothesis that Gitelman syndrome (GS) can be diagnosed using a simple clinical protocol. GS is an inherited kidney disease that usually shows up in patients as low blood potassium levels. Currently, no commercial genetic test for GS exists. Currently, GS is diagnosed based upon clinical findings but this method is not precise and often not reliable. Thus, in order to develop new treatments specific for GS patients, a more exact method of diagnosis would be of benefit.
Eligible subjects are men and women ages 21-60 with normal blood pressure who have been diagnosed with low blood potassium of uncertain cause. Subjects may withdraw at any time.
This study requires 3 visits to OHSU's campus. Study Visit 1 will occur during a normal visit with the nephrologist. As part of the normal visit, a complete interview, physical exam and urine and blood samples will be taken. In addition, another blood sample will be taken and used for genetic analysis. A urine pregnancy test will be administered. A Quality of Life survey, described below, will be administered. The genetic analysis, urine pregnancy test and Quality of Life survey are not normal tests for GS. Blood and urine samples, as well as pregnancy tests will be collected/administered at the Oregon Clinical and Translational Research Institute (OCTRI).
During the intervention period, subjects will refrain from taking their potassium sparing medications for 7 days. This period is called the washout period and is needed to ensure that blood tests during the hydrochlorthiazide (HCTZ, a "water pill") (see below), are not affected by medications. On the 3rd day of the washout period, Study Visit 2 will occur at the OCTRI. This will require blood to be drawn, to insure that subjects maintain proper blood levels of potassium and magnesium. Magnesium and potassium supplements will be allowed during the washout. After review of the blood test results, the investigator may adjust the doses of these supplements in order to keep subject blood levels of potassium and magnesium as close to normal as possible. Blood pressure, heart rate and breathing rate will also be checked at this visit.
Study Visit 3 will occur at the OCTRI and will be devoted to the HCTZ test. During the course of the HCTZ test, subjects will have an plastic tube (an IV) placed in an arm vein, have vital signs checked and receive 50mg of HCTZ to take by mouth . Subjects will provide 8 urine samples and 3 blood samples. The time required for this visit is expected to be 6 hours.
The total time required for subjects to complete the study from Study Visit 1 through discharge from the OCTRI on Study Visit 3 will not be less than 9 days and subjects should not expect the total length to exceed three weeks depending on available appointments for Study Visit 3 at the OCTRI.
The Quality of Life survey is derived from a national research corporation and has been modified for use in this study. The authors of this survey allow free public use of this document provided it is properly referenced in any presentation of the study's results.
HCTZ is an FDA approved medication. There are no experimental drugs or devices used in this study.
The purpose of this study is to develop methods for, and determine the feasibility of, performing a HCTZ test and genetic analysis for GS at OHSU. There is no statistical analysis of data, but descriptive characteristics will be entered into an Access database with password restricted access. Genetic samples will be analyzed using PCR and standard sequencing techniques. Data and samples will be stored for a maximum of 15 years.
- Conditions
- Gitelman Syndrome
- Being tested
- Hydrochlorothiazide
- Keywords
- Hypokalemia, Bartter Syndrome, Salt Wasting
- Medical subject headings
- Gitelman Syndrome, Hypokalemia, Bartter Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
HydrochlorothiazideDrug
Also called HCTZ
50 mg one time
| Study group | Role | What they receive |
|---|---|---|
| Thiazide Response | Experimental | Hydrochlorothiazide 50 mg will be administered by mouth once. Receives: Drug: Hydrochlorothiazide |
What is being measured
The primary outcome is the main question the study is designed to answer.
Chloriuretic Response to a Thiaizde
Change from baseline in fractional chloride excretion in response to a single dose of hydrochlorothiazide
Measured: 6 hours
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jan 2009 (estimated)
- Study startJan 2009
- Primary completionJan 2013
- Study completionSep 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Gitelman SyndromeStudies of the same condition, open and under way.
- 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
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 8 participants (actual)
Sponsor and investigators
- Lead sponsor
- Oregon Health and Science University
- Sponsor type
- University, hospital or other
- Collaborators
- Oregon Clinical and Translational Research Institute
- Responsible party
- Principal investigator, David Ellison, Oregon Health and Science University
- Investigators
- David H Ellison, MD, Principal investigator, Oregon Health and Science University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00822107
- Sponsor's protocol ID
- IRB00004529
- Status last verified
- Apr 2019
- First submitted
- 13 Jan 2009
- Last updated
- 5 Apr 2019
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Apr 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Translational Approach to Gitelman Syndrome
- ClinicalTrials.gov ID
- NCT00822107
- Acronym / sponsor ID
- IRB00004529
- Conditions
- Gitelman Syndrome
- Keywords
- Hypokalemia, Bartter Syndrome, Salt Wasting
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 8 participants (actual)
- Lead sponsor
- Oregon Health and Science UniversityUniversity, hospital or other
- Collaborators
- Oregon Clinical and Translational Research Institute
- Study start
- Jan 2009
- Primary completion
- Jan 2013 (actual)
- Study completion
- Sep 2013 (actual)
- First posted
- 14 Jan 2009 (estimated)
- Results
- Posted 5 Apr 2019
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 test the response to a single dose of thiazide diuretic as a diagnostic test for Gitelman syndrome. Individuals with hypokalemic alkalosis will be enrolled. After a baseline study, they will have the response to 50 mg hydrochlorothiazide on fractional chloride excretion examined.
Detailed description
The purpose of this study is to test the hypothesis that Gitelman syndrome (GS) can be diagnosed using a simple clinical protocol. GS is an inherited kidney disease that usually shows up in patients as low blood potassium levels. Currently, no commercial genetic test for GS exists. Currently, GS is diagnosed based upon clinical findings but this method is not precise and often not reliable. Thus, in order to develop new treatments specific for GS patients, a more exact method of diagnosis would be of benefit.
Eligible subjects are men and women ages 21-60 with normal blood pressure who have been diagnosed with low blood potassium of uncertain cause. Subjects may withdraw at any time.
This study requires 3 visits to OHSU's campus. Study Visit 1 will occur during a normal visit with the nephrologist. As part of the normal visit, a complete interview, physical exam and urine and blood samples will be taken. In addition, another blood sample will be taken and used for genetic analysis. A urine pregnancy test will be administered. A Quality of Life survey, described below, will be administered. The genetic analysis, urine pregnancy test and Quality of Life survey are not normal tests for GS. Blood and urine samples, as well as pregnancy tests will be collected/administered at the Oregon Clinical and Translational Research Institute (OCTRI).
During the intervention period, subjects will refrain from taking their potassium sparing medications for 7 days. This period is called the washout period and is needed to ensure that blood tests during the hydrochlorthiazide (HCTZ, a "water pill") (see below), are not affected by medications. On the 3rd day of the washout period, Study Visit 2 will occur at the OCTRI. This will require blood to be drawn, to insure that subjects maintain proper blood levels of potassium and magnesium. Magnesium and potassium supplements will be allowed during the washout. After review of the blood test results, the investigator may adjust the doses of these supplements in order to keep subject blood levels of potassium and magnesium as close to normal as possible. Blood pressure, heart rate and breathing rate will also be checked at this visit.
Study Visit 3 will occur at the OCTRI and will be devoted to the HCTZ test. During the course of the HCTZ test, subjects will have an plastic tube (an IV) placed in an arm vein, have vital signs checked and receive 50mg of HCTZ to take by mouth . Subjects will provide 8 urine samples and 3 blood samples. The time required for this visit is expected to be 6 hours.
The total time required for subjects to complete the study from Study Visit 1 through discharge from the OCTRI on Study Visit 3 will not be less than 9 days and subjects should not expect the total length to exceed three weeks depending on available appointments for Study Visit 3 at the OCTRI.
The Quality of Life survey is derived from a national research corporation and has been modified for use in this study. The authors of this survey allow free public use of this document provided it is properly referenced in any presentation of the study's results.
HCTZ is an FDA approved medication. There are no experimental drugs or devices used in this study.
The purpose of this study is to develop methods for, and determine the feasibility of, performing a HCTZ test and genetic analysis for GS at OHSU. There is no statistical analysis of data, but descriptive characteristics will be entered into an Access database with password restricted access. Genetic samples will be analyzed using PCR and standard sequencing techniques. Data and samples will be stored for a maximum of 15 years.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Thiazide Response | Experimental | Drug: HydrochlorothiazideHydrochlorothiazide 50 mg will be administered by mouth once. |
Who may qualify
- Ages
- 21 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- Institutional Review Board (IRB) approved written Informed Consent and Health Insurance Portability and Accountability Act (HIPAA) Authorization as per national regulations, must be obtained from the subject or legally authorized representative prior to any study-related procedures (including withdrawal of prohibited medication, if applicable).
- Subject is between the ages of 21 and 60.
- Female subjects of child bearing potential must have a negative urine pregnancy test at the screening visit (Study Visit 1) and must agree to maintain effective birth control during the study.
- Subjects who are referred to Dr. Ellison for evaluation of normotensive hypokalemia of unknown etiology
Key exclusion criteria (9 listed)
- Subject has known allergy to thiazide or sulfonamide medications
- Subject is pregnant or lactating.
- Subject has major systemic illnesses that affect potassium regulation through pathology or pharmacologic treatment. This category includes:
- Subject has documented kidney disease resulting in anuria, proteinuria or abnormal urinalysis, or requiring dialysis for treatment.
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 |
|---|---|---|
| HydrochlorothiazideAlso: HCTZ50 mg one time | Drug | Thiazide Response |
Primary outcome
Chloriuretic Response to a Thiaizde
Time frame: 6 hours
Change from baseline in fractional chloride excretion in response to a single dose of hydrochlorothiazide
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Apr 2019.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Related trials for Gitelman Syndrome
RecruitingObservational study
The Osteoarticular Manifestations in Patients With Gitelman Syndrome
Gitelman Syndrome, CPPD - Calcium Pyrophosphate Deposition Disease
RecruitingObservational study
National Registry of Rare Kidney Diseases
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
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.
David H Ellison, MD principal investigator
Oregon Health and Science University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Hydrochlorothiazide in people with Gitelman Syndrome, run by Oregon Health and Science University 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 4 inclusion and 9 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 5 Apr 2019. 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?
Yes. Results are posted in the registry (first posted 5 Apr 2019). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
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?
Chloriuretic Response to a Thiaizde (time frame: 6 hours). 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 5 Apr 2019.