Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis

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

Completed

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Key information

Conditions

Cystinosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Lysosomal Storage Diseases Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Age range

1 year–15 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

department of dermatology, Nice University Hospital

Nice, 06000, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

cystinosis
known CTNS mutation

Exclusion criteria

patient with corticotherapy treatment
patient with immunosuppressant treatment

Treatment and study plan

analysis of pigmentation

Other

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

Other names: surgical biopsy, skin examination

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

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire de Nice

Other

Registry information

Important dates

Study start: 2008
Primary completion: 2009
Study completion: 2009
First posted: Jan 14, 2009
Registry last updated: Mar 31, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed