NCT01022957

Nephronophthisis : Clinical and Genetic Study

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

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 150 (actual)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: 7 Years
• Healthy volunteers: Not accepted

Summary

to describe evolution of Nephronophthisis

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

Conditions

• Nephronophthisis

Interventions

Type	Name	Description
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

Timeline

• Start date: 2006-11-01
• Primary completion: 2010-01-01
• Completion: 2010-01-01
• First posted: 2009-12-01
• Last updated: 2025-11-20

Locations

1 site across 1 country: France