Hereditary Tubulointerstitial Nephritis

Not Applicable

Completed

• Conditions: Renal Cysts; Nephritis, Interstitial; Gout; Chronic Renal Failure
• Interventions: Other: Blood and urine sample collections

• Registration Number: NCT01312727
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

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 Timeline

• Study Start: 2010-11
• Study First Submitted: 2011-02-22
• Study First Submitted QC: 2011-03-09
• Study First Posted: 2011-03-11
• Primary Completion: 2014-02
• Status Verified: 2016-01
• Study Completion: 2016-07
• Last Update Submitted: 2016-08-25
• Last Update Posted: 2016-08-26

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 225

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
HTIN	Blood and urine sample collections	HTIN

Primary Outcome Measures

Name	Time	Method
Genotype of HTIN	after 18 months	Number of patients/families with mutations in known genes responsible for HTIN

Secondary Outcome Measures

Name	Time	Method
Uromodulin dosage in urine	at 18 months

Trial Locations

Locations (1)

Hôpital Necker Enfants Malades; 🇫🇷 Paris, France