Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis

Status

Completed

Phases

Unknown

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT00822250

Enrollment

Registered

2009-01-14

Start date

2008-04-01

Completion date

2009-12-01

Last updated

2026-03-31

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cystinosis

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.

Interventions

OTHERanalysis of pigmentation

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

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

BASIC_SCIENCE

Masking

NONE

Eligibility

Sex/Gender

ALL

Age

1 Years to 15 Years

Healthy volunteers

Inclusion criteria

1. cystinosis 2. known CTNS mutation

Exclusion criteria

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

Design outcomes

Primary

Measure	Time frame
to determine molecular mechanism of the disease	at time= 0

Secondary

Measure	Time frame
to research relationship between skin phenotype and cystinosis	at time =0

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Apr 1, 2026