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
  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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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 July 24, 2014