Nephronophthisis : Clinical and Genetic Study
Overview
to describe evolution of Nephronophthisis
Full Title of Study: “Characterization and Analysis of Long-term Evolution of Renal and Extra-renal Damages in the Course of Nephronophthisis”
Study Type
- Study Type: Interventional
- Study Design
- Allocation: N/A
- Intervention Model: Single Group Assignment
- Primary Purpose: Diagnostic
- Masking: None (Open Label)
- Study Primary Completion Date: January 2010
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
Interventions
- 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
Arms, Groups and Cohorts
- Experimental: Study group
- Neurological, ophthalmological, olfactive exams and cerebral MRI
Clinical Trial Outcome Measures
Primary Measures
- 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
Secondary Measures
- to study siblings to anticipate clinical complications (renal and extra-renal damages) of Nephronophthisis
Participating in This Clinical Trial
Inclusion Criteria
- NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation – 7 years old and older Exclusion Criteria:
- MRI contra-indications
Gender Eligibility: All
Minimum Age: 7 Years
Maximum Age: N/A
Are Healthy Volunteers Accepted: No
Investigator Details
- Lead Sponsor
- Assistance Publique – Hôpitaux de Paris
- Provider of Information About this Clinical Study
- Sponsor
- Overall Official(s)
- Rémi SALOMON, MD, PhD, Principal Investigator, Assistance Publique – Hôpitaux de Paris
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