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Nephronophthisis : Clinical and Genetic Study (NEPHAER)

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01022957
First Posted: December 1, 2009
Last Update Posted: November 20, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
November 30, 2009
December 1, 2009
November 20, 2017
November 2006
January 2010   (Final data collection date for primary outcome measure)
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 ]
Same as current
Complete list of historical versions of study NCT01022957 on ClinicalTrials.gov Archive Site
to study siblings to anticipate clinical complications (renal and extra-renal damages) of Nephronophthisis
Same as current
Not Provided
Not Provided
 
Nephronophthisis : Clinical and Genetic Study
Characterization and Analysis of Long-term Evolution of Renal and Extra-renal Damages in the Course of Nephronophthisis
to describe evolution of Nephronophthisis
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
Interventional
Not Provided
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Nephronophthisis
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
Experimental: Study group
Neurological, ophthalmological, olfactive exams and cerebral MRI
Intervention: Genetic: genetic diagnosis
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
150
January 2010
January 2010   (Final data collection date for primary outcome measure)

Inclusion Criteria:

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

Exclusion Criteria:

  • MRI contra-indications
Sexes Eligible for Study: All
7 Years and older   (Child, Adult, Senior)
No
Contact information is only displayed when the study is recruiting subjects
France
 
 
NCT01022957
P050605
No
Not Provided
Not Provided
Assistance Publique - Hôpitaux de Paris
Assistance Publique - Hôpitaux de Paris
Not Provided
Principal Investigator: Rémi SALOMON, MD, PhD Assistance Publique - Hôpitaux de Paris
Assistance Publique - Hôpitaux de Paris
March 2011

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP