Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis

Not Applicable

Completed

• Conditions: Cystinosis
• Interventions: Other: analysis of pigmentation

• Registration Number: NCT00822250
• Lead Sponsor: 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2008-04
• Study First Submitted: 2009-01-13
• Study First Submitted QC: 2009-01-13
• Study First Posted: 2009-01-14
• Primary Completion: 2009-12
• Study Completion: 2009-12
• Status Verified: 2010-10
• Last Update Submitted: 2010-10-20
• Last Update Posted: 2010-10-21

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 30

Inclusion Criteria

1. cystinosis
2. known CTNS mutation

Exclusion Criteria

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
1	analysis of pigmentation	cutting hair, skin phenotype description

Primary Outcome Measures

Name	Time	Method
to determine molecular mechanism of the disease	at time= 0

Secondary Outcome Measures

Name	Time	Method
to research relationship between skin phenotype and cystinosis	at time =0

Trial Locations

Locations (1)

department of dermatology, Nice University Hospital; 🇫🇷 Nice, France