Nephronophthisis : Clinical and Genetic Study (NEPHAER)

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Nephronophthisis

Treatments: Genetic: genetic diagnosis

Study type: Interventional

Funder types: Other

Identifiers

NCT01022957

P050605

Details and patient eligibility

About

to describe evolution of Nephronophthisis

Full 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

Enrollment: 150 patients

Sex: All

Ages: 7+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

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

Exclusion criteria

• MRI contra-indications

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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150 participants in 1 patient group

Study group

Experimental group

Description:

Neurological, ophthalmological, olfactive exams and cerebral MRI

Treatment:

Genetic: genetic diagnosis