Nephronophthisis : Clinical and Genetic Study

Not Applicable

Completed

• Conditions: Nephronophthisis
• Interventions: Genetic: genetic diagnosis

• Registration Number: NCT01022957
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief 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

Study Timeline

• Study Start: 2006-11
• Study First Submitted: 2009-11-30
• Study First Submitted QC: 2009-11-30
• Study First Posted: 2009-12-01
• Primary Completion: 2010-01
• Study Completion: 2010-01
• Status Verified: 2011-03
• Last Update Submitted: 2017-11-17
• Last Update Posted: 2017-11-20

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 150

Inclusion Criteria

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

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Exclusion Criteria

• MRI contra-indications

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Study group	genetic diagnosis	Neurological, ophthalmological, olfactive exams and cerebral MRI

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
to study siblings to anticipate clinical complications (renal and extra-renal damages) of Nephronophthisis

Trial Locations

Locations (1)

Hopital Necker; 🇫🇷 Paris, France