Clinical Trial: Nephronophthisis : Clinical and Genetic Study

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

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

Brief Summary: to describe evolution of Nephronophthisis

Detailed Summary: 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
Sponsor: Assistance Publique - Hôpitaux de Paris

Current Primary Outcome: 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 ]

Original Primary Outcome: Same as current

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

Original Secondary Outcome: Same as current

Information By: Assistance Publique - Hôpitaux de Paris

Dates:
Date Received: November 30, 2009
Date Started: November 2006
Date Completion:
Last Updated: March 30, 2011
Last Verified: March 2011