Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis

Centre Hospitalier Universitaire de Nice30 enrolled

Overview

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

Study Type

INTERVENTIONAL

Allocation

Purpose

BASIC_SCIENCE

Masking

NONE

Enrollment

Conditions

Cystinosis

Interventions

analysis of pigmentationOTHER

cutting hair, skin description, skin biopsy for only 4 patients

Eligibility

Sex: ALLMin age: 1 YearMax age: 15 Years

Medical Language ↔ Plain English

Inclusion Criteria: 1. cystinosis 2. known CTNS mutation Exclusion Criteria: 1. patient with corticotherapy treatment 2. patient with immunosuppressant treatment

Locations (1)

department of dermatology, Nice University Hospital

Nice, France

Outcomes

Primary Outcomes

to determine molecular mechanism of the disease

Time frame: at time= 0

Secondary Outcomes

to research relationship between skin phenotype and cystinosis

Time frame: at time =0

Data from ClinicalTrials.gov

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