Influence of Polymorphisms in the ATP6V1 Gene of the V-ATPase on the Development of Incomplete Distal Renal Tubular Acidosis
This study is currently recruiting participants.
Verified April 2013 by University Hospital Inselspital, Berne
Sponsor:
University Hospital Inselspital, Berne
Information provided by:
University Hospital Inselspital, Berne
ClinicalTrials.gov Identifier:
NCT01690039
First received: September 10, 2012
Last updated: April 2, 2013
Last verified: April 2013
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Purpose
The V-ATPase proton pump on the luminal membrane of α-intercalated cells is critical for urinary acidification. To study the impact of polymorphisms in the ATP6V1 gene on acidification in humans in vivo patients with nephrolithiasis will be enrolled in our renal stone registry database and will undergo an intensive metabolic investigation. Exons of the ATP6V1 gene will be sequenced and urinary acidification will be assessed.
| Condition | Intervention |
|---|---|
|
Acidosis, Renal Tubular Nephrolithiasis Vacuolar Proton-Translocating ATPases |
Drug: Furosemide-Fludrocortisone-Test (test for urinary acidification) |
| Study Type: | Observational |
| Study Design: | Observational Model: Case-Only Time Perspective: Prospective |
| Official Title: | Prospective Clinical Study About the Influence of Polymorphisms in the ATP6V1 Gene of the Vacuolar-type H+-ATPase on the Development of Incomplete Distal Renal Tubular Acidosis in Patients With Recurrent Nephrolithiasis. |
Resource links provided by NLM:
Further study details as provided by University Hospital Inselspital, Berne:
Primary Outcome Measures:
- capability of urinary acidification [ Time Frame: five to six hours ] [ Designated as safety issue: No ]
Secondary Outcome Measures:
- polymorphisms in the ATP6V1 gene [ Time Frame: 12 months ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
Blood
| Estimated Enrollment: | 300 |
| Study Start Date: | September 2012 |
| Estimated Study Completion Date: | September 2015 |
| Estimated Primary Completion Date: | September 2015 (Final data collection date for primary outcome measure) |
| Groups/Cohorts | Assigned Interventions |
|---|---|
|
1
Furosemide-Fludrocortisone-Test and Ammonium chloride-Loading Test will be performed in renal stone patients.
|
Drug: Furosemide-Fludrocortisone-Test (test for urinary acidification)
The presence of a lack of urinary acidification will be assessed by an appropriate test in all patients.
Other Name: Application of Furosemide (Lasix® ) and Fludrocortisone (Florinef®)
|
Eligibility| Ages Eligible for Study: | 18 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
Study Population
Patients suffered from at least one kidney stone episode.
Criteria
Inclusion Criteria:
- one or more episodes of nephrolithiasis
Exclusion Criteria:
- absence of informed consent
- all conditions affecting renal acidification
- pregnancy
- nursing
Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01690039
Contacts
| Contact: Daniel Fuster, Attending physician Nephrology | ++41 (0)31 631 37 49 | daniel.fuster@ibmm.unibe.ch |
| Contact: Nasser Dhayat, Resident Nephrology | ++41 (0)31 632 31 44 | nasser.dhayat@insel.ch |
Locations
| Switzerland | |
| Department of Nephrology and Hypertension, Bern University Hospital | Recruiting |
| Bern, Switzerland, 3010 | |
| Principal Investigator: Fuster Daniel, Attending physician Nephrology | |
| Sub-Investigator: Nasser Dhayat, Resident Nephrology | |
Sponsors and Collaborators
University Hospital Inselspital, Berne
Investigators
| Principal Investigator: | Daniel Fuster, Attending physician Nephrology | Department of Nephrology and Hypertension, Bern University Hospital |
More Information
Additional Information:
No publications provided
| Responsible Party: | PD Dr. med. Daniel Fuster, University of Bern, Departement of Nephrology and Hypertension |
| ClinicalTrials.gov Identifier: | NCT01690039 History of Changes |
| Other Study ID Numbers: | 090/12 |
| Study First Received: | September 10, 2012 |
| Last Updated: | April 2, 2013 |
| Health Authority: | Switzerland: Independent Local Research Ethic Commission (Ethikkommission) |
Keywords provided by University Hospital Inselspital, Berne:
|
renal tubular acidosis V-ATPase kidney stones |
Additional relevant MeSH terms:
|
Acidosis Acidosis, Renal Tubular Nephrolithiasis Acid-Base Imbalance Metabolic Diseases Renal Tubular Transport, Inborn Errors Kidney Diseases Urologic Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Urolithiasis Fludrocortisone |
Furosemide Anti-Inflammatory Agents Therapeutic Uses Pharmacologic Actions Sodium Potassium Chloride Symporter Inhibitors Membrane Transport Modulators Molecular Mechanisms of Pharmacological Action Diuretics Natriuretic Agents Physiological Effects of Drugs Cardiovascular Agents |
ClinicalTrials.gov processed this record on May 19, 2013