Back to resultsClinical and Biological Study of Sub-pigmentation During Infantile Cystinosis
Primary Purpose
Cystinosis
Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
analysis of pigmentation
Sponsored by
About this trial
This is an interventional basic science trial for Cystinosis
Eligibility Criteria
Inclusion Criteria:
- cystinosis
- known CTNS mutation
Exclusion Criteria:
- patient with corticotherapy treatment
- patient with immunosuppressant treatment
Sites / Locations
- department of dermatology, Nice University Hospital
Arms of the Study
Arm 1
Arm Type
Other
Arm Label
1
Arm Description
cutting hair, skin phenotype description
Outcomes
Primary Outcome Measures
to determine molecular mechanism of the disease
Secondary Outcome Measures
to research relationship between skin phenotype and cystinosis
Full Information
NCT ID
NCT00822250
First Posted
January 13, 2009
Last Updated
October 20, 2010
Sponsor
Centre Hospitalier Universitaire de Nice
1. Study Identification
Unique Protocol Identification Number
NCT00822250
Brief Title
Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis
Official Title
Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis
Study Type
Interventional
2. Study Status
Record Verification Date
October 2010
Overall Recruitment Status
Completed
Study Start Date
April 2008 (undefined)
Primary Completion Date
December 2009 (Actual)
Study Completion Date
December 2009 (Actual)
3. Sponsor/Collaborators
Name of the Sponsor
Centre Hospitalier Universitaire de Nice
4. Oversight
Data Monitoring Committee
No
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Cystinosis
7. Study Design
Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
30 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
1
Arm Type
Other
Arm Description
cutting hair, skin phenotype description
Intervention Type
Other
Intervention Name(s)
analysis of pigmentation
Other Intervention Name(s)
surgical biopsy, skin examination
Intervention Description
cutting hair, skin description, skin biopsy for only 4 patients
Primary Outcome Measure Information:
Title
to determine molecular mechanism of the disease
Time Frame
at time= 0
Secondary Outcome Measure Information:
Title
to research relationship between skin phenotype and cystinosis
Time Frame
at time =0
10. Eligibility
Sex
All
Minimum Age & Unit of Time
1 Year
Maximum Age & Unit of Time
15 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
cystinosis
known CTNS mutation
Exclusion Criteria:
patient with corticotherapy treatment
patient with immunosuppressant treatment
Facility Information:
Facility Name
department of dermatology, Nice University Hospital
City
Nice
ZIP/Postal Code
06000
Country
France
12. IPD Sharing Statement
Learn more about this trial
Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis
We'll reach out to this number within 24 hrs