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| Name | Class |
|---|---|
| URC-CIC Paris Descartes Necker Cochin | OTHER |
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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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Study group | Experimental | Neurological, ophthalmological, olfactive exams and cerebral MRI |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| genetic diagnosis | Genetic | 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 |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| to study siblings to anticipate clinical complications (renal and extra-renal damages) of Nephronophthisis |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Rémi SALOMON, MD, PhD | Assistance Publique - Hôpitaux de Paris | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hopital Necker | Paris | 75015 | France |
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| ID | Term |
|---|---|
| C537699 | Nephronophthisis, familial juvenile |
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