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Trial record 2 of 3 for:    "Renal tubular acidosis"

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
  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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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: May 28, 2014
Health Authority: Switzerland: 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
Genetic Diseases, Inborn
Kidney Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Renal Tubular Transport, Inborn Errors
Urolithiasis
Urologic Diseases
Fludrocortisone
Furosemide
Anti-Inflammatory Agents
Cardiovascular Agents
Diuretics
Membrane Transport Modulators
Molecular Mechanisms of Pharmacological Action
Natriuretic Agents
Pharmacologic Actions
Physiological Effects of Drugs
Sodium Potassium Chloride Symporter Inhibitors
Therapeutic Uses

ClinicalTrials.gov processed this record on November 24, 2014