Nephritis, InterstitialNTIHNCT01312727
Hereditary Tubulointerstitial Nephritis
A study testing Blood and urine sample collections in people with Nephritis, Interstitial and Chronic Renal Failure, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Nephritis, Interstitial, Chronic Renal Failure, Gout
- What is being tested?
- Blood and urine sample collections
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 225 participants
- Where
- 1 siteFrance
- Study dates
- Nov 2010to Jul 2016
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases
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.
Read the 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
- Being tested
- Blood and urine sample collections
- Keywords
- Tubulointerstitial renal diseases, Hereditary renal diseases, Uromodulin, Renin gene
- Medical subject headings
- Nephritis, Interstitial, Kidney Failure, Chronic, Gout
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood and urine sample collectionsOther
Also called phenotype and genotype analysis, biological analysis
phenotype and genotype analysis, biological analysis
| Study group | Role | What they receive |
|---|---|---|
| HTIN | Other | HTIN Receives: Other: Blood and urine sample collections |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genotype of HTIN
Number of patients/families with mutations in known genes responsible for HTIN
Measured: after 18 months
Secondary outcomes (1)
Uromodulin dosage in urine
Measured: at 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Mar 2011 (estimated)
- Study startNov 2010
- Primary completionFeb 2014
- Study completionJul 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Nephritis, InterstitialStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 225 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- Institut National de la Santé Et de la Recherche Médicale, France, URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Bertrand Knebelmann, MD, PhD, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01312727
- Sponsor's protocol ID
- P081258
- Acronym
- NTIH
- Status last verified
- Nov 2025
- First submitted
- 22 Feb 2011
- Last updated
- 1 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 37456840
Study at a glance
From the registry record, last updated by the sponsor on 1 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases
- ClinicalTrials.gov ID
- NCT01312727
- Acronym / sponsor ID
- NTIH / P081258
- Conditions
- Nephritis, Interstitial, Chronic Renal Failure, Gout, Renal Cysts
- Keywords
- Tubulointerstitial renal diseases, Hereditary renal diseases, Uromodulin, Renin gene
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 225 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- Institut National de la Santé Et de la Recherche Médicale, France, URC-CIC Paris Descartes Necker Cochin
- Study start
- Nov 2010
- Primary completion
- Feb 2014 (actual)
- Study completion
- Jul 2016 (actual)
- First posted
- 11 Mar 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| HTIN | Other | Other: Blood and urine sample collectionsHTIN |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (7 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood and urine sample collectionsAlso: phenotype and genotype analysis, biological analysisphenotype and genotype analysis, biological analysis | Other | HTIN |
Primary outcome
Genotype of HTIN
Time frame: after 18 months
Number of patients/families with mutations in known genes responsible for HTIN
1 secondary outcome
Uromodulin dosage in urine
Time frame: at 18 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Dec 2025.
- Results publication: PubMed 37456840Saei 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Bertrand Knebelmann, MD, PhD principal investigator
Assistance Publique - Hôpitaux de Paris
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood and urine sample collections in people with Nephritis, Interstitial and Chronic Renal Failure, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 1 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genotype of HTIN (time frame: after 18 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01312727, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Dec 2025.