Hereditary Tubulointerstitial Nephritis
NCT01312727 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 225
Last updated 2025-12-01
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.
Conditions
- Nephritis, Interstitial
- Chronic Renal Failure
- Gout
- Renal Cysts
Interventions
- OTHER
-
Blood and urine sample collections
phenotype and genotype analysis, biological analysis
Sponsors & Collaborators
-
Institut National de la Santé Et de la Recherche Médicale, France
collaborator OTHER_GOV -
URC-CIC Paris Descartes Necker Cochin
collaborator OTHER -
Assistance Publique - Hôpitaux de Paris
lead OTHER
Principal Investigators
-
Bertrand Knebelmann, MD, PhD · Assistance Publique - Hôpitaux de Paris
Study Design
- Allocation
- NA
- Purpose
- SCREENING
- Masking
- NONE
- Model
- SINGLE_GROUP
Eligibility
- Min Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2010-11-30
- Primary Completion
- 2014-02-28
- Completion
- 2016-07-31
Countries
- France
Study Locations
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