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. (see Contacts and Locations)
Verified May 2014 by University Hospital Inselspital, Berne
Sponsor:
Information provided by:
University Hospital Inselspital, Berne
ClinicalTrials.gov Identifier:
NCT01690039
First received: September 10, 2012
Last updated: May 28, 2014
Last verified: May 2014

September 10, 2012
May 28, 2014
September 2012
September 2015   (final data collection date for primary outcome measure)
capability of urinary acidification [ Time Frame: five to six hours ] [ Designated as safety issue: No ]
Same as current
Complete list of historical versions of study NCT01690039 on ClinicalTrials.gov Archive Site
polymorphisms in the ATP6V1 gene [ Time Frame: 12 months ] [ Designated as safety issue: No ]
Same as current
Not Provided
Not Provided
 
Influence of Polymorphisms in the ATP6V1 Gene of the V-ATPase on the Development of Incomplete Distal Renal Tubular Acidosis
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.

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.

Not Provided
Observational
Observational Model: Case-Only
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:

Blood

Non-Probability Sample

Patients suffered from at least one kidney stone episode.

  • Acidosis, Renal Tubular
  • Nephrolithiasis
  • Vacuolar Proton-Translocating ATPases
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®)
1
Furosemide-Fludrocortisone-Test and Ammonium chloride-Loading Test will be performed in renal stone patients.
Intervention: Drug: Furosemide-Fludrocortisone-Test (test for urinary acidification)
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
300
September 2015
September 2015   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • one or more episodes of nephrolithiasis

Exclusion Criteria:

  • absence of informed consent
  • all conditions affecting renal acidification
  • pregnancy
  • nursing
Both
18 Years and older
Yes
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
Switzerland
 
NCT01690039
090/12
No
PD Dr. med. Daniel Fuster, University of Bern, Departement of Nephrology and Hypertension
University Hospital Inselspital, Berne
Not Provided
Principal Investigator: Daniel Fuster, Attending physician Nephrology Department of Nephrology and Hypertension, Bern University Hospital
University Hospital Inselspital, Berne
May 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP