NCT01022957

Brief Summary

to describe evolution of Nephronophthisis

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
150

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Nov 2006

Typical duration for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

November 1, 2006

Completed
3.1 years until next milestone

First Submitted

Initial submission to the registry

November 30, 2009

Completed
1 day until next milestone

First Posted

Study publicly available on registry

December 1, 2009

Completed
1 month until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2010

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2010

Completed
Last Updated

November 20, 2025

Status Verified

October 1, 2025

Enrollment Period

3.2 years

First QC Date

November 30, 2009

Last Update Submit

November 17, 2025

Conditions

Nephronophthisis

Keywords

extra renal damages

Outcome Measures

Primary Outcomes (1)

  • 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

Secondary Outcomes (1)

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

Study Arms (1)

Study group

EXPERIMENTAL

Neurological, ophthalmological, olfactive exams and cerebral MRI

Genetic: genetic diagnosis

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

Study group

Eligibility Criteria

Age7 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

  • MRI contra-indications

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hopital Necker

Paris, 75015, France

Location

MeSH Terms

Conditions

Nephronophthisis, familial juvenile

Study Officials

  • Rémi SALOMON, MD, PhD

    Assistance Publique - Hôpitaux de Paris

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

November 30, 2009

First Posted

December 1, 2009

Study Start

November 1, 2006

Primary Completion

January 1, 2010

Study Completion

January 1, 2010

Last Updated

November 20, 2025

Record last verified: 2025-10

Locations

FR(1)