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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