Hereditary Tubulointerstitial Nephritis

Gout Clinical Trial

— NTIH  

Official title:

Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01312727
• Other study ID #: P081258
• Status: Completed
• Phase: N/A
• First received: February 22, 2011
• Last updated: August 25, 2016
• Start date: November 2010
• Est. completion date: July 2016

Study information

• Verified date: January 2016
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Ministry of Health
• Study type: Interventional

Clinical Trial 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.

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).

Recruitment information / eligibility

• Status: Completed
• Enrollment: 225
• Est. completion date: July 2016
• Est. primary completion date: February 2014
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years and older

Eligibility

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

Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Screening

Related Conditions & MeSH terms

• Chronic Renal Failure
• Gout
• Kidney Failure, Chronic
• Nephritis
• Nephritis, Interstitial
• Renal Cysts
• Renal Insufficiency

Intervention

Other:
• Blood and urine sample collections
phenotype and genotype analysis, biological analysis

Locations

Country	Name	City	State
France	Hôpital Necker Enfants Malades	Paris

Sponsors (2)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris	Institut National de la Santé Et de la Recherche Médicale, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genotype of HTIN	Number of patients/families with mutations in known genes responsible for HTIN	after 18 months	No
Secondary	Uromodulin dosage in urine		at 18 months	No