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Hereditary Tubulointerstitial Nephritis (NTIH)

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ClinicalTrials.gov Identifier: NCT01312727
Recruitment Status : Completed
First Posted : March 11, 2011
Last Update Posted : August 26, 2016
Sponsor:
Collaborator:
Institut National de la Santé Et de la Recherche Médicale, France
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Tracking Information
First Submitted Date  ICMJE February 22, 2011
First Posted Date  ICMJE March 11, 2011
Last Update Posted Date August 26, 2016
Study Start Date  ICMJE November 2010
Actual Primary Completion Date February 2014   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: December 11, 2012)
Genotype of HTIN [ Time Frame: after 18 months ]
Number of patients/families with mutations in known genes responsible for HTIN
Original Primary Outcome Measures  ICMJE
 (submitted: March 9, 2011)
NTIC phenotype-genotype correlations [ Time Frame: after 18 months ]
Change History Complete list of historical versions of study NCT01312727 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures  ICMJE
 (submitted: May 27, 2011)
Uromodulin dosage in urine [ Time Frame: at 18 months ]
Original Secondary Outcome Measures  ICMJE Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Hereditary Tubulointerstitial Nephritis
Official Title  ICMJE Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases
Brief Summary The aim of this study is to identify families with hereditary chronic tubulointerstitial renal diseases , characterize the phenotype and screen for mutations in known genesis (UMOD, REN, TCF2, NPHP1). Genome wide analysis will be performed in families without mutations identified.
Detailed Description
  • Inclusion of affected subjects with familial history of chronic renal failure, early gout ,renal cysts in several hospital in France
  • Characterization of the phenotype; dosage of the urinary uromodulin in all subjects
  • Collect DNA samples
  • Screen for UMO mutations first
  • Then for REN or TCF2 depending on the phenotype
  • Validate the use of the dosage of urinary uromodulin for the diagnosis of UMOD associated disease.
  • Identify new genes responsible for hereditary HTIN (Hereditary Tubulointerstitial Nephritis).
Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Screening
Condition  ICMJE
  • Nephritis, Interstitial
  • Chronic Renal Failure
  • Gout
  • Renal Cysts
Intervention  ICMJE Other: Blood and urine sample collections
phenotype and genotype analysis, biological analysis
Other Name: phenotype and genotype analysis, biological analysis
Study Arms  ICMJE HTIN
HTIN
Intervention: Other: Blood and urine sample collections
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Completed
Actual Enrollment  ICMJE
 (submitted: November 12, 2014)
225
Original Estimated Enrollment  ICMJE
 (submitted: March 9, 2011)
150
Actual Study Completion Date  ICMJE July 2016
Actual Primary Completion Date February 2014   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

Inclusion Criteria:

  • Age ≥ 18 years.
  • HTIN of unknown cause
  • Chronic renal failure defined by a eGFR (estimated Glomerular Filtration Rate) estimated according to MDRD (Modification of the Diet in Renal Disease) < 60ml / min / 1,73m2.
  • At least two siblings affected by gout before 40 years or by chronic renal failure.
  • Affiliated or benefiting from a national insurance
  • Signature of the enlightened consent.

Exclusion Criteria:

  • Endstage renal failure before the age of 18 years in all affected subjects of the family.
  • Microscopic or macroscopic persistent hematuria, or proteinuria > 1gramme / 24hours.
  • Other potential cause of TIN (Tubulointerstitial Nephritis): pyelonephritis, drug toxicity.
  • High blood pressure known for more than 10 years before the discovery of the renal disease.
  • Major cardiovascular before the discovery of the renal disease.
  • Chronic auto-immune or infectious disease.
  • Polycystic kidney disease with increased of the size of the kidneys
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE France
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT01312727
Other Study ID Numbers  ICMJE P081258
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE Not Provided
Responsible Party Assistance Publique - Hôpitaux de Paris
Study Sponsor  ICMJE Assistance Publique - Hôpitaux de Paris
Collaborators  ICMJE Institut National de la Santé Et de la Recherche Médicale, France
Investigators  ICMJE
Principal Investigator: Bertrand Knebelmann, MD, PhD Assistance Publique - Hôpitaux de Paris
PRS Account Assistance Publique - Hôpitaux de Paris
Verification Date January 2016

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