A Translational Approach to Gitelman Syndrome
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT00822107|
Recruitment Status : Completed
First Posted : January 14, 2009
Results First Posted : April 5, 2019
Last Update Posted : April 5, 2019
|Condition or disease||Intervention/treatment||Phase|
|Gitelman Syndrome||Drug: Hydrochlorothiazide||Not Applicable|
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 Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||8 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||A Translational Approach to Gitelman Syndrome|
|Study Start Date :||January 2009|
|Actual Primary Completion Date :||January 2013|
|Actual Study Completion Date :||September 2013|
Experimental: Thiazide Response
Hydrochlorothiazide 50 mg will be administered by mouth once.
50 mg one time
Other Name: HCTZ
- Chloriuretic Response to a Thiaizde [ Time Frame: 6 hours ]Change from baseline in fractional chloride excretion in response to a single dose of hydrochlorothiazide
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00822107
|United States, Oregon|
|Oregon Health & Science University|
|Portland, Oregon, United States, 97239|
|Principal Investigator:||David H Ellison, MD||Oregon Health and Science University|