Hereditary Tubulointerstitial Nephritis | NCT01312727

Studies
Hereditary Tubulointerstitial Nephritis

NCT01312727

Sponsor

Assistance Publique - Hôpitaux de Paris

Status

Completed

Last Update Posted

Dec 1, 2025Actual

Enrollment

225Actual

Phase

Not Applicable

Conditions

Nephritis, Interstitial
Chronic Renal Failure
Gout
Renal Cysts

Interventions

Blood and urine sample collections

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Nov 2025

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Nov 2010

Primary Completion Date

Feb 2014Actual

Completion Date

Jul 2016Actual

First Submitted Date

Feb 22, 2011

First Submission Date that Met QC Criteria

Mar 9, 2011

First Posted Date

Mar 11, 2011Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Nov 24, 2025

Last Update Posted Date

Dec 1, 2025Actual

Name	Class
Institut National de la Santé Et de la Recherche Médicale, France	OTHER_GOV
URC-CIC Paris Descartes Necker Cochin	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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).

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

225Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
HTIN	Other	HTIN	Other: Blood and urine sample collections

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Blood and urine sample collections	Other	phenotype and genotype analysis, biological analysis	HTIN

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Genotype of HTIN	Number of patients/families with mutations in known genes responsible for HTIN	after 18 months

Secondary Outcomes

Measure	Description	Time Frame
Uromodulin dosage in urine		at 18 months

Other Outcomes

Not provided

Eligibility Module

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Bertrand Knebelmann, MD, PhD	Assistance Publique - Hôpitaux de Paris	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Hôpital Necker Enfants Malades		Paris		75015	France

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
37456840	Result	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.

ID	Term
D009395	Nephritis, Interstitial
D007676	Kidney Failure, Chronic
D006073	Gout

ID	Term
D009393	Nephritis
D007674	Kidney Diseases
D014570	Urologic Diseases
D052776	Female Urogenital Diseases

ID	Term
D001800	Blood Specimen Collection
D010641	Phenotype
D005838	Genotype

ID	Term
D013048	Specimen Handling
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis