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Nephronophthisis : Clinical and Genetic Study (NEPHAER)

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ClinicalTrials.gov Identifier: NCT01022957
Recruitment Status : Completed
First Posted : December 1, 2009
Last Update Posted : November 20, 2017
Sponsor:
Information provided by (Responsible Party):

Study Description
Brief Summary:
to describe evolution of Nephronophthisis

Condition or disease Intervention/treatment
Nephronophthisis Genetic: genetic diagnosis

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 Design

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 150 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Characterization and Analysis of Long-term Evolution of Renal and Extra-renal Damages in the Course of Nephronophthisis
Study Start Date : November 2006
Primary Completion Date : January 2010
Study Completion Date : January 2010


Arms and Interventions

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


Outcome Measures

Primary Outcome Measures :
  1. 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 ]

Secondary Outcome Measures :
  1. to study siblings to anticipate clinical complications (renal and extra-renal damages) of Nephronophthisis

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   7 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • MRI contra-indications
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01022957


Locations
France
Hopital Necker
Paris, France, 75015
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Rémi SALOMON, MD, PhD Assistance Publique - Hôpitaux de Paris
More Information

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT01022957     History of Changes
Other Study ID Numbers: P050605
First Posted: December 1, 2009    Key Record Dates
Last Update Posted: November 20, 2017
Last Verified: March 2011

Keywords provided by Assistance Publique - Hôpitaux de Paris:
extra renal damages