Nephronophthisis : Clinical and Genetic Study (NEPHAER)

November 17, 2017 updated by: Assistance Publique - Hôpitaux de Paris

Characterization and Analysis of Long-term Evolution of Renal and Extra-renal Damages in the Course of Nephronophthisis

to describe evolution of Nephronophthisis

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

To specify the long term evolution of Nephronophthisis in terms of renal disease as well as extra-renal damages for patients having a confirmed diagnosis of NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation

Study Type

Interventional

Enrollment (Actual)

150

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Paris, France, 75015
        • Hôpital Necker

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

5 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation
  • 7 years old and older

Exclusion Criteria:

  • MRI contra-indications

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Study group
Neurological, ophthalmological, olfactive exams and cerebral MRI
Genetic: genetic diagnosis
to determine the long term evolution of Nephronophthisis in terms of renal disease as well as extra-renal damages for patients having a confirmed diagnosis of NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
to determine the long term evolution of Nephronophthisis in terms of renal disease as well as extra-renal damages for patients having a confirmed diagnosis of NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation
Time Frame: start from the first time of clinical diagnosis to now
start from the first time of clinical diagnosis to now

Secondary Outcome Measures

Outcome Measure
to study siblings to anticipate clinical complications (renal and extra-renal damages) of Nephronophthisis

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assistance Publique - Hôpitaux de Paris

Investigators

  • Principal Investigator: Rémi SALOMON, MD, PhD, Assistance Publique - Hôpitaux de Paris

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

November 1, 2006

Primary Completion (Actual)

January 1, 2010

Study Completion (Actual)

January 1, 2010

Study Registration Dates

First Submitted

November 30, 2009

First Submitted That Met QC Criteria

November 30, 2009

First Posted (Estimate)

December 1, 2009

Study Record Updates

Last Update Posted (Actual)

November 20, 2017

Last Update Submitted That Met QC Criteria

November 17, 2017

Last Verified

March 1, 2011

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • P050605

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Nephronophthisis

  • Assistance Publique - Hôpitaux de Paris
    Recruiting
    Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM) (CILLICORIRCM)
    Ciliopathies | Bardet-Biedl Syndrome | Nephronophthisis | Senior-Loken Syndrome | Joubert Syndrome | Jeune Syndrome
    France
  • Advice Pharma Group srl
    Recruiting
    KidneYou - Innovative Digital Therapy
    Diabetes | Chronic Kidney Diseases | Tuberous Sclerosis | Albuminuria | Treatment Adherence | Arterial Hypertension | Treatment Adherence and Compliance | Nephronophthisis | Polycystic Kidney | Chronic Glomerulonephritis | Cystic Kidney Diseases | Cortical Cystic Disease | Cystic Diseases
    Italy
  • Lisa M. Guay-Woodford
    National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
    Recruiting
    UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
    Nephronophthisis | Joubert Syndrome | Bardet Biedl Syndrome | Autosomal Recessive Polycystic Kidney Disease | Congenital Hepatic Fibrosis | Hepato/Renal Fibrocystic Disease | Meckel-Gruber Syndrome | Caroli Syndrome | Oro-Facial-Digital Syndrome Type I | Glomerulocystic Kidney Disease
    United States
  • UK Kidney Association
    Recruiting
    National Registry of Rare Kidney Diseases (RaDaR)
    Vasculitis | AL Amyloidosis | Tuberous Sclerosis | Fabry Disease | Cystinuria | Focal Segmental Glomerulosclerosis | IgA Nephropathy | Bartter Syndrome | Pure Red Cell Aplasia | Membranous Nephropathy | Atypical Hemolytic Uremic Syndrome | Autosomal Dominant Polycystic Kidney Disease | Cystinosis | Nephronophthisis | BK Nephropathy and other conditions
    United Kingdom

Clinical Trials on genetic diagnosis

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Denmark

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe