Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis

This study has been completed.
Sponsor:
Information provided by:
Centre Hospitalier Universitaire de Nice
ClinicalTrials.gov Identifier:
NCT00822250
First received: January 13, 2009
Last updated: October 20, 2010
Last verified: October 2010
  Purpose

The purpose of this study is to determine the molecular mechanism of this disease and to research the relationship between cystinosis and skin phenotype.


Condition Intervention
Cystinosis
Other: analysis of pigmentation

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Basic Science
Official Title: Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis

Resource links provided by NLM:


Further study details as provided by Centre Hospitalier Universitaire de Nice:

Primary Outcome Measures:
  • to determine molecular mechanism of the disease [ Time Frame: at time= 0 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • to research relationship between skin phenotype and cystinosis [ Time Frame: at time =0 ] [ Designated as safety issue: No ]

Estimated Enrollment: 30
Study Start Date: April 2008
Study Completion Date: December 2009
Primary Completion Date: December 2009 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
1
cutting hair, skin phenotype description
Other: analysis of pigmentation
cutting hair, skin description, skin biopsy for only 4 patients
Other Names:
  • surgical biopsy
  • skin examination

  Eligibility

Ages Eligible for Study:   1 Year to 15 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  1. cystinosis
  2. known CTNS mutation

Exclusion Criteria:

  1. patient with corticotherapy treatment
  2. patient with immunosuppressant treatment
  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: NCT00822250

Locations
France
department of dermatology, Nice University Hospital
Nice, France, 06000
Sponsors and Collaborators
Centre Hospitalier Universitaire de Nice
  More Information

No publications provided

Responsible Party: Département de la Recherche Clinique et de l'Innovation, CHU de Nice
ClinicalTrials.gov Identifier: NCT00822250     History of Changes
Other Study ID Numbers: 07-PP-05
Study First Received: January 13, 2009
Last Updated: October 20, 2010
Health Authority: France: Direction Générale de la Santé
France: Institutional Ethical Committee

Additional relevant MeSH terms:
Cystinosis
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on October 23, 2014