NCT01312727

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
225

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Nov 2010

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

November 1, 2010

Completed
4 months until next milestone

First Submitted

Initial submission to the registry

February 22, 2011

Completed
17 days until next milestone

First Posted

Study publicly available on registry

March 11, 2011

Completed
2.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2014

Completed
2.4 years until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2016

Completed
Last Updated

December 1, 2025

Status Verified

November 1, 2025

Enrollment Period

3.3 years

First QC Date

February 22, 2011

Last Update Submit

November 24, 2025

Conditions

Nephritis, InterstitialChronic Renal FailureGoutRenal Cysts

Keywords

Tubulointerstitial renal diseasesHereditary renal diseasesUromodulinRenin gene

Outcome Measures

Primary Outcomes (1)

  • Genotype of HTIN

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

    after 18 months

Secondary Outcomes (1)

  • Uromodulin dosage in urine

    at 18 months

Study Arms (1)

HTIN

OTHER

HTIN

Other: Blood and urine sample collections

Interventions

Blood and urine sample collectionsOTHER

phenotype and genotype analysis, biological analysis

Also known as: phenotype and genotype analysis, biological analysis
HTIN

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • 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.

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hôpital Necker Enfants Malades

Paris, 75015, France

Location

Related Publications (1)

  • 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.

    PMID: 37456840RESULT

MeSH Terms

Conditions

Nephritis, InterstitialKidney Failure, ChronicGout

Interventions

Blood Specimen CollectionPhenotypeGenotype

Condition Hierarchy (Ancestors)

NephritisKidney DiseasesUrologic DiseasesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesRenal Insufficiency, ChronicRenal InsufficiencyChronic DiseaseDisease AttributesPathologic ProcessesPathological Conditions, Signs and SymptomsArthritisJoint DiseasesMusculoskeletal DiseasesCrystal ArthropathiesRheumatic DiseasesPurine-Pyrimidine Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative TechniquesGenetic Phenomena

Study Officials

  • Bertrand Knebelmann, MD, PhD

    Assistance Publique - Hôpitaux de Paris

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
SCREENING
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 22, 2011

First Posted

March 11, 2011

Study Start

November 1, 2010

Primary Completion

February 1, 2014

Study Completion

July 1, 2016

Last Updated

December 1, 2025

Record last verified: 2025-11

Locations

FR(1)