Hereditary Tubulointerstitial Nephritis

NCT ID: NCT01312727

Last Updated: 2025-12-01

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 225 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2010-11-30
• Study Completion Date: 2016-07-31

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).

Conditions

Nephritis, Interstitial; Chronic Renal Failure; Gout; Renal Cysts

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: SCREENING
• Blinding Strategy: NONE

Study Groups

HTIN

HTIN

Group Type: OTHER

Blood and urine sample collections

Intervention Type: OTHER

phenotype and genotype analysis, biological analysis

Interventions

Blood and urine sample collections

phenotype and genotype analysis, biological analysis

Intervention Type: OTHER

Other Intervention Names

phenotype and genotype analysis, biological analysis

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Institut National de la Santé Et de la Recherche Médicale, France

OTHER_GOV

Sponsor Role: collaborator

URC-CIC Paris Descartes Necker Cochin

OTHER

Sponsor Role: collaborator

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Bertrand Knebelmann, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Locations

Hôpital Necker Enfants Malades

Paris, , France

Countries

France

References

Saei H, Moriniere V, Heidet L, Gribouval O, Lebbah S, Tores F, Mautret-Godefroy M, Knebelmann B, Burtey S, Vuiblet V, Antignac C, Nitschke P, Dorval G. VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease. iScience. 2023 Jun 17;26(7):107171. doi: 10.1016/j.isci.2023.107171. eCollection 2023 Jul 21.

Reference Type: RESULT

PMID: 37456840 (View on PubMed)

Other Identifiers

P081258

Identifier Type: -

Identifier Source: org_study_id