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Hereditary Tubulointerstitial Nephritis (NTIH)

Primary Purpose

Nephritis, Interstitial, Chronic Renal Failure, Gout

Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Blood and urine sample collections
Sponsored by
Assistance Publique - Hôpitaux de Paris
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional screening trial for Nephritis, Interstitial focused on measuring Tubulointerstitial renal diseases, Hereditary renal diseases, Uromodulin, Renin gene

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

  • Hôpital Necker Enfants Malades

Arms of the Study

Arm 1

Arm Type

Other

Arm Label

HTIN

Arm Description

HTIN

Outcomes

Primary Outcome Measures

Genotype of HTIN
Number of patients/families with mutations in known genes responsible for HTIN

Secondary Outcome Measures

Uromodulin dosage in urine

Full Information

First Posted
February 22, 2011
Last Updated
August 25, 2016
Sponsor
Assistance Publique - Hôpitaux de Paris
Collaborators
Institut National de la Santé Et de la Recherche Médicale, France
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1. Study Identification

Unique Protocol Identification Number
NCT01312727
Brief Title
Hereditary Tubulointerstitial Nephritis
Acronym
NTIH
Official Title
Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases
Study Type
Interventional

2. Study Status

Record Verification Date
January 2016
Overall Recruitment Status
Completed
Study Start Date
November 2010 (undefined)
Primary Completion Date
February 2014 (Actual)
Study Completion Date
July 2016 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Assistance Publique - Hôpitaux de Paris
Collaborators
Institut National de la Santé Et de la Recherche Médicale, France

4. Oversight

Data Monitoring Committee
No

5. 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.
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).

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Nephritis, Interstitial, Chronic Renal Failure, Gout, Renal Cysts
Keywords
Tubulointerstitial renal diseases, Hereditary renal diseases, Uromodulin, Renin gene

7. Study Design

Primary Purpose
Screening
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
225 (Actual)

8. Arms, Groups, and Interventions

Arm Title
HTIN
Arm Type
Other
Arm Description
HTIN
Intervention Type
Other
Intervention Name(s)
Blood and urine sample collections
Other Intervention Name(s)
phenotype and genotype analysis, biological analysis
Intervention Description
phenotype and genotype analysis, biological analysis
Primary Outcome Measure Information:
Title
Genotype of HTIN
Description
Number of patients/families with mutations in known genes responsible for HTIN
Time Frame
after 18 months
Secondary Outcome Measure Information:
Title
Uromodulin dosage in urine
Time Frame
at 18 months

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility 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: 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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Bertrand Knebelmann, MD, PhD
Organizational Affiliation
Assistance Publique - Hôpitaux de Paris
Official's Role
Principal Investigator
Facility Information:
Facility Name
Hôpital Necker Enfants Malades
City
Paris
ZIP/Postal Code
75015
Country
France

12. IPD Sharing Statement

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Hereditary Tubulointerstitial Nephritis

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