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Nephronophthisis : Clinical and Genetic Study

Characterization and Analysis of Long-term Evolution of Renal and Extra-renal Damages in the Course of Nephronophthisis

Status
Completed
Phases
NA
Study type
Interventional
Source
ClinicalTrials.gov
Registry ID
NCT01022957
Acronym
NEPHAER
Enrollment
150
Registered
2009-12-01
Start date
2006-11-30
Completion date
2010-01-31
Last updated
2025-11-20

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Nephronophthisis

Keywords

extra renal damages

Brief summary

to describe evolution of Nephronophthisis

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

GENETICgenetic 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

Sponsors

URC-CIC Paris Descartes Necker Cochin
CollaboratorOTHER
Assistance Publique - Hôpitaux de Paris
Lead SponsorOTHER

Study design

Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE

Eligibility

Sex/Gender
ALL
Age
7 Years to No maximum
Healthy volunteers
No

Inclusion criteria

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

Exclusion criteria

* MRI contra-indications

Design outcomes

Primary

MeasureTime 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 mutationstart from the first time of clinical diagnosis to now

Secondary

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

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026