Comment Period Extended to 3/23/2015 for Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials

Hereditary Tubulointerstitial Nephritis (NTIH)

This study is ongoing, but not recruiting participants.
Institut National de la Santé Et de la Recherche Médicale, France
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris Identifier:
First received: February 22, 2011
Last updated: November 12, 2014
Last verified: November 2014

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 Intervention
Nephritis, Interstitial
Chronic Renal Failure
Renal Cysts
Other: Blood and urine sample collections

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Screening
Official Title: Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases

Resource links provided by NLM:

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • Genotype of HTIN [ Time Frame: after 18 months ] [ Designated as safety issue: No ]
    Number of patients/families with mutations in known genes responsible for HTIN

Secondary Outcome Measures:
  • Uromodulin dosage in urine [ Time Frame: at 18 months ] [ Designated as safety issue: No ]

Enrollment: 225
Study Start Date: November 2010
Estimated Study Completion Date: December 2014
Primary Completion Date: February 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Other: Blood and urine sample collections
phenotype and genotype analysis, biological analysis
Other Name: phenotype and genotype analysis, biological analysis

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).

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
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
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Please refer to this study by its identifier: 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

No publications provided

Responsible Party: Assistance Publique - Hôpitaux de Paris Identifier: NCT01312727     History of Changes
Other Study ID Numbers: P081258
Study First Received: February 22, 2011
Last Updated: November 12, 2014
Health Authority: France: Ministry of Health

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

Additional relevant MeSH terms:
Kidney Failure, Chronic
Nephritis, Interstitial
Kidney Diseases
Renal Insufficiency
Renal Insufficiency, Chronic
Urologic Diseases processed this record on March 03, 2015