Hereditary Tubulointerstitial Nephritis (NTIH)

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2013 by Assistance Publique - Hôpitaux de Paris
Sponsor:
Collaborator:
Institut National de la Santé Et de la Recherche Médicale, France
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT01312727
First received: February 22, 2011
Last updated: August 2, 2013
Last verified: August 2013
  Purpose

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
Gout
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 ]

Estimated Enrollment: 250
Study Start Date: November 2010
Estimated Study Completion Date: February 2014
Estimated Primary Completion Date: February 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
HTIN
HTIN
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).
  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

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:

  • Chronic renal failure discovered after 50 years in all affected subjects of the family.
  • 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
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: NCT01312727

Contacts
Contact: Bertrand Knebelmann, MD, PhD 0033144495458 bertrand.knebelmann@nck.aphp.fr
Contact: Laurence lecomte, PhD 0033158413545 laurence.lecomte@cch.aphp.fr

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

No publications provided

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT01312727     History of Changes
Other Study ID Numbers: P081258
Study First Received: February 22, 2011
Last Updated: August 2, 2013
Health Authority: France: Ministry of Health

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

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

ClinicalTrials.gov processed this record on August 19, 2014