Nephronophthisis : Clinical and Genetic Study (NEPHAER)

This study has been completed.
Sponsor:
Information provided by:
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT01022957
First received: November 30, 2009
Last updated: March 30, 2011
Last verified: March 2011

November 30, 2009
March 30, 2011
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 ] [ Designated as safety issue: No ]
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 [ Time Frame: unknown ] [ Designated as safety issue: No ]
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: 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
Other Name: genetic diagnosis
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
Both
7 Years and older
No
Contact information is only displayed when the study is recruiting subjects
France
 
NCT01022957
P050605
No
Amel Ouslimani, Department Clinical research of Development
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