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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
Information provided by (Responsible Party):

Study Description
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.

Condition or disease Intervention/treatment
Nephritis, Interstitial Chronic Renal Failure Gout Renal Cysts Other: Blood and urine sample collections

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 Design

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 225 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Screening
Official Title: Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases
Study Start Date : November 2010
Primary Completion Date : February 2014
Study Completion Date : July 2016
Arms and Interventions

Arm Intervention/treatment
Other: Blood and urine sample collections
phenotype and genotype analysis, biological analysis
Other Name: phenotype and genotype analysis, biological analysis

Outcome Measures

Primary Outcome Measures :
  1. Genotype of HTIN [ Time Frame: after 18 months ]
    Number of patients/families with mutations in known genes responsible for HTIN

Secondary Outcome Measures :
  1. Uromodulin dosage in urine [ Time Frame: at 18 months ]

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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
Contacts and Locations

Information from the National Library of Medicine

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): NCT01312727

Hôpital Necker Enfants Malades
Paris, France, 75015
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Institut National de la Santé Et de la Recherche Médicale, France
Principal Investigator: Bertrand Knebelmann, MD, PhD Assistance Publique - Hôpitaux de Paris
More Information

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT01312727     History of Changes
Other Study ID Numbers: P081258
First Posted: March 11, 2011    Key Record Dates
Last Update Posted: August 26, 2016
Last Verified: January 2016

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Tubulointerstitial renal diseases
Hereditary renal diseases
Renin gene

Additional relevant MeSH terms:
Renal Insufficiency
Kidney Failure, Chronic
Nephritis, Interstitial
Kidney Diseases
Urologic Diseases
Renal Insufficiency, Chronic