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Nephronophthisis : Clinical and Genetic Study (NEPHAER)

This study has been completed.
Sponsor:
Information provided by:
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT01022957
First received: November 30, 2009
Last updated: March 30, 2011
Last verified: March 2011
History of Changes
  Purpose

to describe evolution of Nephronophthisis


Condition Intervention
Nephronophthisis
 Genetic: genetic diagnosis

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Official Title: Characterization and Analysis of Long-term Evolution of Renal and Extra-renal Damages in the Course of Nephronophthisis

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • 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 [ Time Frame: start from the first time of clinical diagnosis to now ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • to study siblings to anticipate clinical complications (renal and extra-renal damages) of Nephronophthisis [ Time Frame: unknown ] [ Designated as safety issue: No ]

Enrollment: 150
Study Start Date: November 2006
Study Completion Date: January 2010
Primary Completion Date: January 2010 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Study group
Neurological, ophthalmological, olfactive exams and cerebral MRI
 Genetic: genetic 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
Other Name: genetic diagnosis

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

  Eligibility

Ages Eligible for Study:   7 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • MRI contra-indications
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01022957

Locations
France
Hopital Necker
Paris, France, 75015
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Rémi SALOMON, MD, PhD Assistance Publique - Hôpitaux de Paris
  More Information

No publications provided

Responsible Party: Amel Ouslimani, Department Clinical research of Development
ClinicalTrials.gov Identifier: NCT01022957     History of Changes
Other Study ID Numbers: P050605
Study First Received: November 30, 2009
Last Updated: March 30, 2011
Health Authority: France: Ministry of Health

Keywords provided by Assistance Publique - Hôpitaux de Paris:
extra renal damages

ClinicalTrials.gov processed this record on June 17, 2013