Nephronophthisis : Clinical and Genetic Study

Assistance Publique - Hôpitaux de Paris150 enrolled

Overview

to describe evolution of Nephronophthisis

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 Type

INTERVENTIONAL

Allocation

Purpose

DIAGNOSTIC

Masking

NONE

Enrollment

150

Conditions

Nephronophthisis

Interventions

genetic diagnosisGENETIC

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

Eligibility

Sex: ALLMin age: 7 Years

Medical Language ↔ Plain English

Inclusion Criteria: * NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation * 7 years old and older Exclusion Criteria: * MRI contra-indications

Locations (1)

Hopital Necker

Paris, France

Outcomes

Primary Outcomes

Time frame: start from the first time of clinical diagnosis to now

Secondary Outcomes

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

Data from ClinicalTrials.gov

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