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Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis

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

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

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
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


Ages Eligible for Study:   1 Year to 15 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  1. cystinosis
  2. known CTNS mutation

Exclusion Criteria:

  1. patient with corticotherapy treatment
  2. patient with immunosuppressant treatment
  Contacts and Locations
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Please refer to this study by its identifier: NCT00822250

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

Responsible Party: Département de la Recherche Clinique et de l'Innovation, CHU de Nice Identifier: NCT00822250     History of Changes
Other Study ID Numbers: 07-PP-05
Study First Received: January 13, 2009
Last Updated: October 20, 2010

Additional relevant MeSH terms:
Lysosomal Storage Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases processed this record on May 25, 2017