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Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis

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ClinicalTrials.gov Identifier: NCT00822250
Recruitment Status : Completed
First Posted : January 14, 2009
Last Update Posted : October 21, 2010
Sponsor:
Information provided by:
Centre Hospitalier Universitaire de Nice

Brief Summary:
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 or disease Intervention/treatment Phase
Cystinosis Other: analysis of pigmentation Not Applicable

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 30 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Official Title: Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis
Study Start Date : April 2008
Actual Primary Completion Date : December 2009
Actual Study Completion Date : December 2009

Resource links provided by the National Library of Medicine


Arm Intervention/treatment
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




Primary Outcome Measures :
  1. to determine molecular mechanism of the disease [ Time Frame: at time= 0 ]

Secondary Outcome Measures :
  1. to research relationship between skin phenotype and cystinosis [ Time Frame: at time =0 ]


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Ages Eligible for Study:   1 Year to 15 Years   (Child)
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00822250


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

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
First Posted: January 14, 2009    Key Record Dates
Last Update Posted: October 21, 2010
Last Verified: October 2010

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