Nephronophthisis : Clinical and Genetic Study

Nephronophthisis Clinical Trial

— NEPHAER  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01022957
• Other study ID #: P050605
• Status: Completed
• Phase: N/A
• First received: November 30, 2009
• Last updated: November 17, 2017
• Start date: November 2006
• Est. completion date: January 2010

Study information

• Verified date: March 2011
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

to describe evolution of Nephronophthisis

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 150
• Est. completion date: January 2010
• Est. primary completion date: January 2010
• Accepts healthy volunteers: No
• Gender: All
• Age group: 7 Years and older

Eligibility

Inclusion Criteria:

• NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation

• 7 years old and older

Exclusion Criteria:

• MRI contra-indications

Related Conditions & MeSH terms

• Nephronophthisis

Intervention

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

Locations

Country	Name	City	State
France	Hopital Necker	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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		start from the first time of clinical diagnosis to now
Secondary	to study siblings to anticipate clinical complications (renal and extra-renal damages) of Nephronophthisis