Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis

Centre Hospitalier Universitaire de Nice

Status: Completed

Conditions: Cystinosis

Treatments: Other: analysis of pigmentation

Study type: Interventional

Funder types: Other

Identifiers

NCT00822250

07-PP-05

Details and patient eligibility

About

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

Enrollment: 30 estimated patients

Sex: All

Ages: 1 to 15 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. cystinosis
2. known CTNS mutation

Exclusion criteria

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

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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30 participants in 1 patient group

1

Other group

Description:

cutting hair, skin phenotype description

Treatment:

Other: analysis of pigmentation